05/07/09 |
Capasso May 03, 2009 Nat Genet Common variants in BARD1 influence susceptibility to high-risk neuroblastoma
|
Neuroblastoma (high-risk) |
397 cases, 2,043 controls |
189 cases, 1,178 controls |
2q35 |
BARD1 |
rs6435862-G |
0.29 |
9 x 10-18 |
1.68 [1.49-1.90] |
Illumina [462,866] |
N |
05/07/09 |
Hallmayer May 03, 2009 Nat Genet Narcolepsy is strongly associated with the T-cell receptor alpha locus
|
Narcolepsy |
807 Caucasian cases, 1,074 Caucasian controls |
363 Caucasian cases, 355 Caucasian controls, 561 Asian cases, 605 Asian controls, 133 African American cases, 144 African American controls |
14q11.2 |
TRA-alpha, TRAJ10 |
rs1154155-C |
0.14 |
3 x 10-22 |
1.69 [1.52-1.88] |
Affymetrix [549,596] |
N |
05/07/09 |
Takeuchi April 29, 2009 Diabetes Confirmation of multiple risk loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population
|
Type 2 diabetes |
519 Japanese cases, 503 Japanese controls |
5,629 Japanese cases, 7,370 Japanese controls |
9p21.3 11p15.5 6p22.3 8q24.11 10q22.33 10q25.2 3q27.2 |
CDKN2A, CDKN2B KCNQ1 CDKAL1 SLC30A8 HHEX TCF7L2 IGF2BP2 |
rs2383208-A rs2237892-C rs4712523-G rs13266634-C rs1111875-C rs7903146-T rs4402960-T |
0.55 0.59 0.41 0.57 0.28 0.04 0.31 |
2 x 10-29 1 x 10-26 7 x 10-20 2 x 10-14 7 x 10-12 8 x 10-12 1 x 10-6 |
1.34 [1.27-1.41] 1.33 [1.27-1.41] 1.27 [1.21-1.33] 1.22 [1.16-1.28] 1.21 [1.15-1.28] 1.54 [1.36-1.74] 1.14 [1.08-1.21] |
Illumina [482,625] |
N |
05/05/09 |
Cho April 26, 2009 Nat Genet A large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits
|
Biomedical quantitative traits |
8,842 Korean individuals |
7,861 Korean individuals |
12q24.13 7q31.31 6q22.31 1q32.2 12q21.33 16q12.2 7q31.31 12q21.33 |
C12orf51 FAM3C LOC644502 CD46, LOC148696 ATP2B1 FTO FAM3C ATP2B1 |
rs2074356-T rs7776725-C rs12110693-A rs12731740-T rs17249754-A rs9939609-A rs7776725-C rs17249754-A |
0.15 0.13 0.49 0.10 0.37 0.13 0.13 0.37 |
8 x 10-12 (waist-hip ratio) 1 x 10-11 (BD-RT) 2 x 10-9 (pulse rate) 3 x10-9 (pulse rate) 1 x 10-7 (SBP) 2 x 10-7 (BMI) 2 x 10-6 (BD-TT) 3 x10-6 (DBP) |
.01 [0.004-0.008] decrease NR .66 [0.45-0.87] beats per minute increase 1.09 [0.72-1.44] beats per minute increase 1.06 [0.67-1.45] mm Hg decrease .24 [0.14-0.32] kg/m2 increase NR .63 [0.37-0.89] mm Hg decrease |
Affymetrix [2,156,535] (imputed) |
N |
05/05/09 |
"
|
Height |
8,842 Korean individuals |
7,861 Korean individuals |
3q23 8q12.1 2p16.1 6p21.31 1p12 |
ZBTB38 PLAG1 EFEMP1 HMGA1 Intergenic |
rs10513137-A rs13273123-A rs3791675-G rs6918981-G rs17038182-C |
0.26 0.07 0.22 0.21 0.42 |
6 x10-12 1 x10-9 2 x10-9 3 x10-8 5 x10-7 |
.46 [0.33-0.59] cm increase .71 [0.48-0.94] cm decrease .42 [0.28-0.56] cm increase .4 [0.26-0.54] cm increase .3 [0.18-0.42] cm decrease |
Affymetrix [2,156,535] (imputed) |
N |
04/23/09 |
Ikram April 15, 2009 N Engl J Med Genomewide Association Studies of Stroke
|
Stroke |
19,602 Caucasian individuals |
3,004 African American individuals, 652 Caucasian cases, 3,613 Caucasian controls |
12p13.33 |
NINJ2 |
rs12425791-A |
0.19 |
1 x 10-9 (ischemic stroke) |
1.29 [1.19-1.41] |
Affymetrix & Illumina [2,194,468] |
N |
04/22/09 |
Poduslo April 14, 2009 Am J Med Genet B Neuropsychiatr Genet A genome screen of successful aging without cognitive decline identifies LRP1B by haplotype analysis
|
Successful cognitive aging |
89 cases, 227 controls |
NR |
2q22.1 |
LRP1B |
rs12474609-? |
NR |
6 x 10-9 |
NR |
Affymetrix [469,218] |
N |
05/05/09 |
Hiura April 10, 2009 Circ J Identification of Genetic Markers Associated With High-Density Lipoprotein-Cholesterol by Genome-Wide Screening in a Japanese Population
|
LDL cholesterol |
900 Japanese individuals |
1,810 Japanese individuals |
16q13 |
CETP |
rs3764261-A |
0.20 |
3 x 10-12 |
6.2 mg/dl increase |
Illumina [368,274] |
N |
04/22/09 |
Mangino April 08, 2009 J Med Genet A genome-wide association study identifies a novel locus on chromosome 18q12.2 influencing white cell telomere length
|
Telomere length |
1,625 women |
1,165 individuals |
18q12.2 |
BRUNOL4, VPS34 |
rs2162440-G |
NR |
3 x 10-6 |
106 [62.88-149.12] base pairs shorter |
Illumina [~314,075] |
N |
04/14/09 |
Esparza-Gordillo April 06, 2009 Nat Genet A common variant on chromosome 11q13 is associated with atopic dermatitis
|
Atopic dermatitis |
939 cases, 975 controls, 1,097 family members |
2,637 cases, 3,957 controls |
11q13.5 |
C11orf30 |
rs7927894-A |
0.36 |
8 x 10-10 |
1.22 [1.15-1.30] |
Affymetrix [342,303] |
N |
04/16/09 |
Kamatani April 06, 2009 Nat Genet A genome-wide association study identifies variants in the HLA-DP locus associated with chronic hepatitis B in Asians
|
Hepatitis B |
179 Japanese cases, 934 Japanese controls |
1,599 Japanese cases, 2,821 Japanese controls, 308 Thai cases, 546 Thai controls |
6p21.32 |
HLA-DPB1 |
rs9277535-G |
0.56 |
6 x 10-39 |
1.75 [1.61-1.92] |
Illumina [499,544] |
N |
04/22/09 |
Soranzo April 03, 2009 PLoS Genet Meta-analysis of genome-wide scans for human adult stature identifies novel Loci and associations with measures of skeletal frame size
|
Height |
12,611 individuals |
7,187 individuals |
12q14.3 20q11.22 3q23 6p22.1 7p15.1 6q24.1 6p21.31 13q14.3 7p22.2 4p15.32 7q21.2 4q21.21 15q25.2 6p21.33 1p36.11 14q24.3 5p13.3 9p13.3 4q31.22 8q12.1 |
HMGA2 UQCC ZBTB38 HIST1H1D JAZF1 GPR126 HMGA1,C6orf106 DLEU7 GNA12 LCORL CDK6 PRKG2 ADAMTSL3 HLA-B CATSPER4 TMED10 NPR3 WDR40A HHIP PLAG1 |
rs8756-? rs6088813-? rs6763931-? rs10946808-? rs849141-? rs6570507-? rs1776897-? rs3118914-? rs1182188-? rs6830062-? rs2282978-? rs710841-? rs4842838-? rs13437082-? rs11809207-? rs910316-? rs10472828-? rs7871764-? rs1812175-? rs7815788-? |
0.17 0.11 0.35 0.43 0.23 0.42 0.49 0.39 0.27 0.23 0.08 0.12 0.32 0.13 0.23 0.15 0.26 0.44 0.49 0.39 |
5 x 10-14 1 x 10-13 3 x 10-12 6 x 10-12 3 x 10-11 4 x 10-11 8 x 10-11 4 x 10-10 3 x 10-9 5 x 10-9 1 x 10-8 2 x 10-8 3 x 10-8 5 x 10-8 6 x 10-8 1 x 10-7 3 x 10-7 2 x 10-6 4 x 10-6 5 x 10-6 |
.08 [0.06-0.10] SD decrease .09 [0.07-0.11] SD decrease .07 [0.05-0.09] SD increase .07 [0.04-0.10] SD increase .08 [0.06-0.10] SD increase .08 [0.06-0.10] SD decrease .12 [0.08-0.16] SD increase .08 [0.05-0.11] SD decrease .07 [0.04-0.10] SD increase .1 [0.07-0.13] SD increase .06 [0.04-0.08] SD decrease .07 [0.04-0.10] SD increase .06 [0.04-0.07] SD decrease .07 [0.04-0.10] SD decrease .07 [0.04-0.10] SD increase .05 [0.03-0.07] SD increase .06 [0.04-0.08] SD decrease .06 [0.03-0.09] SD increase .06 [0.03-0.09] SD decrease .07 [0.04-0.10] SD decrease |
Illumina [229,216] |
N |
04/13/09 |
Nan April 02, 2009 J Invest Dermatol Genome-Wide Association Study of Tanning Phenotype in a Population of European Ancestry
|
Tanning |
2,287 women |
870 controls |
6p25.3 11q14.3 5p13.3 16q24.3 11q14.3 16q24.3 14q32.2 12q13.13 21q22.3 5q33.1 |
EXOC2 TYR MATP MC1R GRM5 MC1R Intergenic LOC440100 PRDM15 PPARGC1B |
rs12210050-T rs1393350-A rs35391-T rs11648785-T rs10831496-G rs154659-C rs17094273-A rs7969151-A rs7279297-G rs32579-A |
NR NR NR NR NR NR NR 0.21 NR NR |
5 x 10-14 2 x 10-13 3 x 10-10 3 x 10-9 5 x 10-9 7 x 10-8 9 x 10-8 2 x 10-6 3 x 10-6 4 x 10-6 |
.22 [0.16-0.28] increase in tanning ability score .19 [0.13-0.25] increase in tanning ability score .44 [0.30-0.58] decrease in tanning ability score .14 [0.10-0.18] decrease in tanning ability score .14 [0.10-0.18] decrease in tanning ability score .14 [0.08-0.20] increase in tanning ability score .2 [0.12-0.28] increase in tanning ability score .13 [0.07-0.19] increase in tanning ability score .12 [0.06-0.18] decrease in tanning ability score .11 [0.07-0.15] decrease in tanning ability score |
Illumina [528,173] |
N |
04/03/09 |
Thomas March 29, 2009 Nat Genet A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
|
Breast cancer |
1,145 cases, 1,142 controls |
8,625 cases, 9,657 controls |
10q26.13 1p11.2 16q12.1 2q35 14q24.1 5q11.2 |
FGFR2 Intergenic TOX3 Intergenic RAD51L1 MAP3K1 |
rs2981579-T rs11249433-C rs3803662-T rs13387042-A rs999737-C rs16886165-G |
0.41 0.39 0.27 0.51 0.76 0.15 |
2 x 10-10 7 x 10-10 1 x 10-9 2 x 10-8 2 x 10-7 5 x 10-7 |
1.17 [1.07-1.27] 1.16 [1.09-1.24] 1.16 [1.07-1.27] 1.25 [1.15-1.37] 1.06 [1.01-1.14] 1.23 [1.12-1.35] |
Illumina [528,173] |
N |
03/31/09 |
Newton-Cheh March 22, 2009 Nat Genet Common variants at ten loci influence QT interval duation in the QTGEN Study
|
QT interval |
13,685 individuals |
15,854 individuals |
1q23.3 1q23.3 1q23.3 16q21 6q22.31 11p15.5 1p36.31 7q36.1 7q36.1 11p15.5 16p13.13 3p22.2 17q12 |
NOS1AP NOS1AP NOS1AP CNOT1,GINS3, NDRG4, SLC38A7, GOT2 c6orf204,SLC35F1, PLN, ASF1A KCNQ1 RNF207,NPHP4, CHDS, ACOT7, PLEKHG5, KLH21 KCNH2 KCNH2 KCNQ1 LITAF,CLEC16A, SNN, ZC3H7A, TNFRSF17 SCN5A LIG3,RFFL |
rs12143842-T rs12029454-A rs16857031-G rs37062-G rs11756438-A rs2074238-T rs846111-C rs4725982-T rs2968864-C rs12576239-T rs8049607-T rs12053903-C rs2074518-T |
0.26 0.15 0.14 0.24 0.47 0.06 0.28 0.22 0.25 0.13 0.49 0.34 0.46 |
2 x 10-78 3 x 10-45 1 x 10-34 3 x 10-25 5 x 10-22 3 x 10-17 1 x 10-16 5 x 10-16 8 x 10-16 1 x 10-15 5 x 10-15 1 x 10-14 6 x 10-12 |
3.15 [2.81-3.49] msec increase 2.98 [2.63-3.32] msec increase 2.63 [2.28-2.97] msec increase 1.75 [1.41-2.09] msec decrease 1.4 [1.06-1.74] msec increase 7.88 [6.16-9.59] msec decrease 1.75 [1.41-2.09] msec increase 1.58 [1.23-1.92] msec increase 1.4 [1.06-1.74] msec decrease 1.75 [1.41-2.09] msec increase 1.23 [0.88-1.57] msec increase 1.23 [0.88-1.57] msec decrease 1.05 [0.71-1.39] msec decrease |
Affymetrix and Illumina [up to 2,543,686] (imputed) |
N |
04/02/09 |
Pfeufer March 22, 2009 Nat Genet Common variants at ten loci modulate the QT interval duration in the QTSCD Study
|
QT interval |
15,842 individuals |
up to 13,602 individuals |
1q23.3 1q23.3 16q21 6q22.31 6q22.31 11p15.5 1p36.31 1q24.2 7q36.1 16p13.13 3p22.2 17q24.3 |
NOS1AP NOS1AP NDRG4 PLN PLN KCNQ1 RNF207 ATP1B1 KCNH2 LITAF SCN5A KCNJ2 |
rs12143842-T rs4657178-T rs7188697-A rs11970286-T rs12210810-C rs12296050-T rs846111-C rs10919071-A rs2968863-T rs8049607-T rs11129795-A rs17779747-T |
0.24 0.33 0.74 0.44 0.06 0.20 0.29 0.87 0.29 0.46 0.23 0.35 |
2 x 10-78 7 x 10-33 7 x 10-25 2 x 10-24 2 x 10-17 3 x 10-17 4 x 10-16 1 x 10-15 2 x 10-15 6 x 10-15 5 x 10-14 6 x 10-12 |
2.88 [2.43-3.33] ms increase 2.19 [1.76-2.62] ms increase 1.66 [1.20-2.12] ms increase 1.64 [1.25-2.03] ms increase 3.13 [2.29-3.97] ms decrease 1.44 [0.95-1.93] ms increase 1.49 [1.00-1.98] ms increase 2.05 [1.48-2.62] ms increase 1.35 [0.90-1.80] ms decrease 1.25 [0.81-1.69] ms increase 1.27 [0.82-1.72] ms decrease 1.02 [0.53-1.51] ms decrease |
Affymetrix and Illumina [unsure] (imputed) |
N |
04/02/09 |
Org March 20, 2009 Hum Mol Genet Genome-wide scan identifies CDH13 as a novel susceptibility locus contributing to blood pressure determination in two European populations
|
Hypertension |
364 cases, 590 controls |
1,043 cases, 1,769 controls |
16q23.3 |
CDH13 |
rs11646213-T |
0.60 |
8 x 10-6 |
1.28 [1.15-1.43] |
Affymetrix [395,912] |
N |
03/31/09 |
Pillai March 20, 2009 PLoS Genet A Genome-Wide Association Study in Chronic Obstructive Pulmonary Disease (COPD): Identification of Two Major Susceptibility Loci
|
Chronic Obstructive Pulmonary Disease |
823 cases, 810 controls |
2,840 family members, 389 cases, 472 controls |
15q25.1 4q31.22 |
CHRNA3,CHRNA4,CHRNA5, IREB2, PSMA4, NP_001013641.2,Q9UD29 HHIP |
rs8034191-C rs1828591-? |
0.33 NR |
1 x 10-10 1 x 10-7 |
1.4 [1.18-1.67] 1.38 [1.17-1.63] |
Ilumina [493,609] |
N |
03/30/09 |
Takeuchi March 20, 2009 PLoS Genet A Genome-Wide Association Study Confirms VKORC1, CYP2C9, and CYP4F2 as Principal Genetic Determinants of Warfarin Dose
|
Warfarin maintenance dose |
1,053 individuals |
588 individuals |
16p11.2 10q23.33 10q23.33 19p13.12 |
VKORC1 CYP2C9 CYP2C9 CYP4F2 |
rs9923231-T rs1057910-? rs1799853-? rs2108622-? |
0.40 0.07 0.11 0.24 |
3 x 10-181 3 x 10-79 1 x 10-31 3 x 10-10 |
.97 [0.91-1.02] mg/week decrease 1.11 [1.00-1.22] mg/week decrease .54 [0.45-0.63] mg/week decrease .21 [0.14-0.27] mg/week increase |
Illumina [325,997] |
N |
03/31/09 |
Wilk March 20, 2009 PLoS Genet A Genome-Wide Association Study of Pulmonary Function Measures in the Framingham Heart Study
|
Pulmonary function measures |
7,691 individuals |
835 individuals |
4q31.22 |
HHIP |
rs13147758-G |
0.39 |
8 x 10-11 |
.1 [NR] % increase in FEV1/FVC ratio |
Affymetrix [2,540,223] (imputed) |
N |
04/01/09 |
Tanaka March 18, 2009 Am J Hum Genet Genome-wide Association Study of Vitamin B6, Vitamin B12, Folate, and Homocysteine Blood Concentrations
|
Folate pathway vitamins |
2,934 individuals |
686 individuals |
19q13.33 1p36.12 10p13 11q12.1 3p14.1 |
FUT2 ALPL CUBN TCN1 PRICKLE2 |
rs602662-A rs4654748-C rs11254363-A rs526934-A rs153734-T |
0.53 0.50 0.70 0.67 0.84 |
3 x 10-20 (vitamin B12) 8 x 10-18 (vitamin B6) 1 x 10-6 (vitamin B12) 2 x 10-6 (vitamin B12) 7 x 10-6 (folate) |
49.77 [37.09-62.45] pg/ml increase 1.45 [0.90-2.00] ng/ml decrease 21.49 [7.71-35.27] pg/mL decrease 27.62 [11.65-43.59] pg/mL increase .29 [0.13-0.45] ng/ml increase |
Affymetrix and Illumina [~2.5 million] (imputed) |
N |
03/31/09 |
Kilpivaara March 15, 2009 Nat Genet A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms
|
Myeloproliferative neoplasms |
324 cases, 2,999 controls |
NR |
9p24.1 |
JAK2 |
rs10974944-? |
NR |
4 x 10-20 |
3.1 [2.40-4.00] |
Affymetrix [62,775] |
N |
03/31/09 |
Cui March 14, 2009 Mol Med Genome Wide Association Study of Determinants of Anti-cyclic Citrullinated Peptide Antibody Titer in Adults with Rheumatoid Arthritis
|
Anti-cyclic Citrullianted Peptide Antibody |
531 individuals with rheumatoid arthritis |
849 individuals with rheumatoid arthritis |
6p21.32 |
HLA-DRA, HLA-DR3,BTNL2 |
rs1980493-? |
0.13 |
5 x 10-7 |
NR |
Affymetrix [97,248] |
N |
03/29/09 |
Liu March 13, 2009 PLoS Genet Genome-wide association analyses identify SPOCK as a key novel gene underlying age at menarche
|
Menarche |
477 women |
854 siblings, 762 women, 1,387 Chinese women |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix [379,319] |
N |
03/30/09 |
Tregouet March 10, 2009 Blood Common susceptibility allele are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach
|
Venous thromboembolism |
419 cases, 1,228 controls |
1,757 cases, 1,480 controls |
9q34.2 |
ABO |
rs505922-C |
0.35 |
4 x 10-15 |
1.81 [1.56-2.11] |
Illumina [291,872] |
N |
03/28/09 |
Birnbaum March 08, 2009 Nat Genet Key susceptibility locus for nonsyndromic cleft lip with or without cleft palate on chromosome 8q24
|
Nonsyndromic cleft lip with or without cleft palate |
224 cases, 383 controls |
246 cases, 954 controls |
8q24.21 1q32.2 |
PVT1, GSDMC IRF6 |
rs987525-A rs642961-A |
0.20 NR |
3 x 10-24 2 x 10-6 |
2.57 [2.02-3.26] NR |
Illumina [521,176] |
N |
03/24/09 |
Liu March 04, 2009 Am J Hum Genet Genome-wide Association and Replication Studies Identified TRHR as an Important Gene for Lean Body Mass
|
Body mass (lean) |
1,000 individuals |
1,488 individuals, 1,972 family members, 2,955 Chinese individuals |
8q23.1 |
TRHR |
rs7832552-T |
0.32 |
4 x 10-10 |
.1 [0.04-0.16] kg increase |
Affymetrix [379,319] |
N |
03/24/09 |
Vink March 04, 2009 Am J Hum Genet Genome-wide Association Study of Smoking Initiation and Current Smoking
|
Smoking behavior |
3,540 individuals |
6,405 individuals, 824 twin pairs |
NR |
NR |
NR |
NR |
NS |
NR |
Perlegen [427,037] |
N |
03/28/09 |
Hattori March 02, 2009 Am J Med Genet B Neuropsychiatr Genet Preliminary genome-wide association study of bipolar disorder in the Japanese population
|
Bipolar disorder |
107 cases, 107 controls |
395 cases, 409 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix [88,671] |
N |
04/01/09 |
Caporaso February 27, 2009 PLoS ONE Genome-wide and candidate gene association study of cigarette smoking behaviors
|
Smoking behaviors |
4,611 individuals (2,617 smokers) |
NR |
3q13.12 1p22.3 1p35.2 3q24 12q21.2 16p13.2 18q11.2 19p12 5q14.3 9p21.2 9q31.1 Xq23 14q24.1 17p13.2 Xp11.3 12q21.33 13q33.1 4q31.1 7p15.2 3q27.2 4q28.1 |
BBX AK002179 Intergenic Intergenic Intergenic Intergenic CABLES1 ZNF505 LOC133789 Intergenic Intergenic TRPC5 ACTN1 CAMKK1 MAOA Intergenic Intergenic SET7 Intergenic Intergenic Intergenic |
rs6437740-? rs7553864-? rs910696-? rs800082-? rs1402279-? rs3112740-? rs11082304-? rs10411195-? rs933688-? rs1889899-? rs10989661-? rs7050529-? rs2268983-? rs758642-? rs3027409-? rs1847461-? rs912969-? rs17050782-? rs886716-? rs6444087-? rs950063-? |
0.24 0.39 0.31 0.42 0.95 0.86 0.49 0.03 0.17 0.37 0.74 0.07 0.51 0.34 0.95 0.94 0.07 0.21 0.69 0.26 0.39 |
2 x 10-7 (CPD) 3 x 10-6 (SMKDU) 3 x 10-6 (CPD) 3 x 10-6 (PKYRS) 5 x 10-6 (EVNV) 6 x 10-6 (CPDBI) 6 x 10-6 (SMKAGE) 6 x 10-6 (CPD) 6 x 10-6 (EVNV) 6 x 10-6 (EVNV) 6 x 10-6 (CIGSTAT) 6 x 10-6 (CPD) 7 x 10-6 (CPDBI) 7 x 10-6 (CPD) 7 x 10-6 (CPDBI) 8 x 10-6 (CIGSTAT) 8 x 10-6 (SMKDU) 8 x 10-6 (SMKAGE) 8 x 10-6 (CPDBI) 9 x 10-6 (EVNV) 9 x 10-6 (SMKDU) |
.1 [NR] fewer cigarettes per day .08 [NR] more years .08 [NR] more cigarettes per day .12 [NR] more pack years 1.51 [NR] 2.16 [NR] .03 [NR] years older .21 [NR] fewer cigarettes per day 1.48 [NR] 1.26 [NR] 1.68 [NR] .06 [NR] fewer cigarettes per day 1.52 [NR] .08 [NR] more cigarettes per day 1.73 [NR] 1.8 [NR] .14 [NR] fewer years .03 [NR] years older 1.52 [NR] 1.28 [NR] .08 [NR] fewer years |
Illumina [~518,000] (pooled) |
N |
03/18/09 |
Pezzolesi February 27, 2009 Diabetes Genome-wide Association Scan for Diabetic Nephropathy Susceptibility Genes in Type 1 Diabetes Mellitus
|
Diabetic nephropathy |
820 cases, 885 controls |
1,304 individuals |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix [359,193] |
N |
03/18/09 |
Gu February 25, 2009 Nature Identification of IFRD1 as a modifier gene for cystic fibrosis lung disease
|
Cystic fibrosis severity |
160 severe lung disease patients, 160 mild lung disease patients (all homozygous for CFTR deltaF508 variant) |
101 severe lung disease patients, 381 mild lung disease patients, 1,118 family members |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix [100,198] (pooled) |
N |
03/18/09 |
Xiong February 25, 2009 Am J Hum Genet Genome-wide Association and Follow-Up Replication Studies Identified ADAMTS18 and TGFBR3 as Bone Mass Candidate Genes in Different Ethnic Groups
|
Bone mineral density |
1,000 white individuals |
4,925 white individuals, 350 Chinese hip fracture cases, 350 Chinese controls, 2,955 Chinese individuals, 908 West African men |
16q23.1 1p22.2 |
ADAMTS18 TGFBR3 |
rs11864477-C rs17131547-A |
0.12 0.01 |
2 x 10-8 (hip BMD) 1 x 10-6 (spine BMD) |
1 % [NR] of variance explained 1.2 % [NR] of variance explained |
Affymetrix [379,319] |
N |
03/01/09 |
Schrauwen February 18, 2009 Am J Hum Genet A Genome-wide Analysis Identifies Genetic Variants in the RELN Gene Associated with Otosclerosis
|
Otosclerosis |
302 cases, 302 controls |
847 cases, 872 controls |
7q22.1 |
RELN |
rs3914132-? |
0.23 |
2 x 10-8 |
1.54 [1.32-1.79] |
Illumina [~555,000] (pooled) |
N |
05/07/09 |
Smith February 15, 2009 Heart Rhythm Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae
|
Electrocardiographic conduction measures |
1,262 Kosraen individuals |
NR |
3p22.2 4p16.1 3p22.2 1q32.1 4q31.3 2q31.1 6p12.2 |
SCN5A MSX1 SCN5A NR NR Intergenic NR |
rs7638909-G rs2008242-? rs2070488-A rs7512898-? rs17030434-? rs2461751-G rs283566-? |
0.40 0.15 0.33 0.41 0.43 0.44 0.16 |
2 x 10-6 (PR interval) 3 x 10-6 (PR segment) 4 x 10-6 (PR interval) 5 x 10-6 (PR segment) 5 x 10-6 (P wave duration) 8 x 10-6 (PR interval) 9 x 10-6 (P wave duration) |
4.8 [2.84-6.76] ms increase NR 5 [2.84-7.16] ms decrease NR NR 4.54 [2.58-6.50] ms increase NR |
Affymetrix [338,049] |
N |
02/28/09 |
Zheng February 15, 2009 Nat Genet Genome-wide association study identifies a new breast cancer susceptibility locus at 6q25.1
|
Breast cancer |
1,505 Chinese cases, 1,522 Chinese controls |
1,554 Chinese cases, 1,576 Chinese controls |
6q25.1 |
C6orf97 |
rs2046210-A |
0.37 |
2 x 10-15 |
1.29 [1.21-1.37] |
Affymetrix [up to 607,728] |
N |
02/28/09 |
Soranzo February 12, 2009 Blood A novel variant on chromosome 7Q22.3 associated with mean platelet volume, counts and function
|
Mean platelet volume |
1,221 individuals |
7,365 individuals |
7q22.3 |
Intergenic |
rs342293-G |
0.45 |
1 x 10-24 |
.02 [0.014-0.018] log fl increase |
Affymetrix [361,352] |
N |
03/01/09 |
Erdmann February 08, 2009 Nat Genet New susceptibility locus for coronary artery disease on chromosome 3q22.3
|
Coronary artery disease |
6,990 cases, 8,955 controls |
12,417 cases, 12,411 controls |
3q22.3 12q24.31 |
MRAS HNF1A,C12orf43 |
rs9818870-T rs2259816-T |
0.15 0.36 |
7 x 10-13 5 x 10-7 |
1.15 [1.11-1.19] 1.08 [1.05-1.11] |
Affymetrix [567,119] |
N |
03/01/09 |
Gudbjartsson February 08, 2009 Nat Genet Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
|
Plasma eosinophil count |
9,392 individuals |
12,118 individuals |
12q24.12 3q21.3 2q12.1 5q31.1 2q34 5q22.1 6p21.32 |
SH2B3 GATA2 IL1RL1 IL5 IKZF2 WDR36, TSLP MHC |
rs3184504-T rs4857855-T rs1420101-A rs4143832-C rs12619285-G rs2416257-G rs2269426-T |
0.38 0.82 0.41 0.16 0.74 0.85 0.76 |
7 x 10-19 (European) 9 x 10-17 (European) 5 x 10-14 (European) 1 x 10-10 (European) 5 x 10-10 (European) 1 x 10-6 (European) 3 x 10-6 (European) |
7.6 [5.9-9.3] % standard unit increase 9.4 [7.2-11.6] % standard unit increase 6.4 [4.7-8.1] % standard unit increase 7.1 [4.9-9.2] % standard unit increase 6.3 [4.3-8.3] % standard unit increase 6.1 [3.7-8.6] % standard unit increase 4.6 [2.7-6.6] % standard unit increase |
Illumina [312,179] |
N |
03/01/09 |
Kathiresan February 08, 2009 Nat Genet Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants
|
Myocardial infarction (early onset) |
2,967 cases, 3,075 controls |
9,746 cases, 9,746 controls |
9p21.3 1p13.3 21q22.11 1q41 6p24.1 19p13.2 10q11.21 1p32.3 2q33.1 |
CDKN2A, CDKN2B CELSR2, PSRC1, SORT1 SLC5A3, MRPS6, KCNE2 MIA3 PHACTR1 LDLR CXCL12 PCSK9 WDR12 |
rs4977574-G rs646776-T rs9982601-T rs17465637-C rs12526453-C rs1122608-G rs1746048-C rs11206510-T rs6725887-C |
0.56 0.81 0.13 0.72 0.65 0.75 0.84 0.81 0.14 |
3 x 10-44 8 x 10-12 6 x 10-11 1 x 10-9 1 x 10-9 2 x 10-9 7 x 10-9 1 x 10-8 1 x 10-8 |
1.29 [1.25-1.34] 1.19 [1.13-1.26] 1.2 [1.14-1.27] 1.14 [1.10-1.19] 1.12 [1.08-1.17] 1.15 [1.10-1.20] 1.17 [1.11-1.24] 1.15 [1.10-1.21] 1.17 [1.11-1.23] |
Affymetrix [~2.5 million] (imputed) |
N |
04/01/09 |
Tregouet February 08, 2009 Nat Genet Genome-wide haplotype association study identifies the SLC22A3-LPAL2-LPA gene cluster as a risk locus for coronary artery disease
|
Coronary artery disease |
1,926 cases, 2,938 controls |
7,073 cases, 7,325 controls |
6q25.3 6q25.3 |
SLC22A3,LPAL2,LPA SLC22A3,LPAL2,LPA |
4-SNP haplotype-2 4-SNP haplotype-1 |
0.02 0.16 |
4 x 10-15 (CCTC) 1 x 10-9 (CTTG) |
1.82 [1.57-2.12] 1.2 [1.13-1.28] |
Affymetrix [~500,000] |
N |
02/28/09 |
Gudmundsson February 06, 2009 Nat Genet Common variants on 9q22.33 and 14q13.3 predispose to thyroid cancer in European populations
|
Thyroid cancer |
192 cases, 37,196 controls |
432 cases, 1,727 controls |
9q22.33 14q13.3 |
FOXE1 NKX2-1 |
rs965513-A rs944289-T |
0.34 0.57 |
2 x 10-27 2 x 10-9 |
1.75 [1.59-1.94] 1.37 [1.24-1.52] |
Illumina [304,083] |
N |
02/27/09 |
Garcia-Barcelo February 05, 2009 Proc Natl Acad Sci USA Genome-wide association study identifies NRG1 as a susceptibility locus for Hirschsprung's disease
|
Hirschsprung's disease |
181 Chinese cases, 346 Chinese controls |
190 Chinese cases, 510 Chinese controls |
10q21.1 8p12 |
RET, GALNACT-2, RASGEF1A NRG1 |
rs2742234-T rs16879552-G |
NR 0.39 |
4 x 10-18 2 x 10-8 |
NR 1.68 [1.40-2.00] |
Affymetrix [293,836] |
N |
03/31/09 |
Chio February 04, 2009 Hum Mol Genet A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis
|
Amyotrophic lateral sclerosis |
553 cases, 2,338 controls |
3,149 cases, 3,335 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Illumina [545,066] |
N |
02/27/09 |
Liu February 03, 2009 Mol Psychiatry Genome-wide association analyses suggested a novel mechanism for smoking behavior regulated by IL15
|
Smoking behavior |
417 Caucasian males, 423 Caucasian females |
412 African American males, 839 African American females, 3,491 Caucasian males, 4,132 Caucasian females |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix [379,319] |
N |
02/28/09 |
Kim February 01, 2009 Clin Exp Allergy Alpha-T-catenin (CTNNA3) gene was identified as a risk variant for toluene diisocyanate-induced asthma by genome-wide association analysis
|
Asthma (toluene diisocyanate-induced) |
84 Korean cases, 263 Korean controls |
NR |
13q12.13 10q21.3 9p21.3 |
Intergenic CTNNA3 Intergenic |
rs9319321-T rs10762058-G rs16937883-G |
0.29 0.25 0.02 |
3 x 10-6 6 x 10-6 7 x 10-6 |
5.2 [2.47-10.92] 5 [2.36-10.6] 5.29 [2.41-11.61] |
Affymetrix [312,978] |
N |
02/27/09 |
Kim February 01, 2009 Pharmacogenomics Genome-wide association study of acute post-surgical pain in humans
|
Pain |
60 females, 52 males |
NR |
19p12 11q23.3 1p21.3 |
LOC400680, ZNF429 NR NR |
rs2562456-? rs17122021-? rs6693882-? |
NR NR NR |
2 x 10-10 (onset time of analgesia) 7 x 10-7 (maximum post-operative pain rating) 2 x 10-6 (post-operative pain onset time) |
NR NR NR |
Affymetrix [374,975] |
N |
03/30/09 |
Polasek February 01, 2009 Croat Med J Genome-wide association study of anthropometric traits in Korcula Island, Croatia
|
Anthropometric traits |
898 individuals |
NR |
16p11.2 14q32.13 14q23.3 5q33.3 7q22.1 1p36.32 7q22.1 13q14.3 2q31.1 5q33.3 7q22.1 2p22.3 5q33.2 |
SEZ6L2 LOC122509, FAM14B MAX SGCD ZNF498 Intergenic ZNF498 XTP498 Intergenic SGCD ZNF498 CRIM1 AMPA1, GRIA1 |
rs4787483-? rs7157940-? rs7158173-? rs157350-? rs7792939-? rs7513590-? rs7792939-? rs7792939-? rs7590983-? rs157350-? rs7792939-? rs1863080-? rs12658202-? |
0.34 0.46 0.48 0.11 0.15 0.10 0.15 0.28 0.05 0.11 0.15 0.10 0.45 |
2 x 10-6 (waist cirumference) 3 x 10-6 (weight) 4 x 10-6 (waist circumference) 4 x 10-6 (brachial cirdumference) 4 x 10-6 (weight) 5 x 10-6 (height) 5 x 10-6 (brachial circumference) 6 x 10-6 (brachial circumference) 6 x 10-6 (BMI) 6 x 10-6 (hip circumference) 6 x 10-6 (hip circumference) 8 x 10-6 (brachial circumference) 9 x 10-6 (height) |
.16 [0.09-0.23] mm increase .12 [0.07-0.17] kg increase .11 [0.06-0.16] mm decrease .31 [0.18-0.44] mm decrease .26 [0.15-0.37] kg increase .31 [0.17-0.45] mm decrease .26 [0.15-0.37] mm increase .17 [0.10-0.24] mm increase .46 [0.26-0.66] kg/m2 increase .31 [0.18-0.44] mm decrease .26 [0.15-0.37] mm increase .31 [0.17-0.45] mm increase .11 [0.06-0.16] mm increase |
Illumina [316,730] |
N |
02/25/09 |
Stefansson February 01, 2009 Nat Genet Variant in the sequence of the LINGO1 gene confers risk of essential tremor
|
Essential tremor |
452 cases, 14,378 controls |
300 cases, 1,419 controls |
15q24.3 |
LINGO1 |
rs9652490-G |
0.23 |
1 x 10-9 |
1.55 [1.35-1.79] |
Illumina [305,624] |
N |
03/31/09 |
Zemunik February 01, 2009 Croat Med J Genome-wide association study of biochemical traits in Korcula Island, Croatia
|
Biochemical measures |
898 individuals |
NR |
4p16.1 12q24.23 4q12 4q13.1 6q16.3 12q12 4q31.23 Xp22.31 12q21.33 12q24.23 4q23 18q12.3 Xq23 20p12.1 21q22.3 21q22.3 16q13 |
SLC2A9 KSR2 USP46 LPHN3 GRIK2 Intergenic NR3C2 Neuroligin 4 Intergenic KSR2 RAP1GDS1 SLC14A2 ZCCHC16 PCSK2 PKNOX1 PKNOX1 CETP |
rs13129697-C rs4767631-A rs346923-A rs4599440-A rs12207601-G rs871392-A rs1490453-A rs7885458-G rs10777332-A rs10444502-C rs10516430-A rs10502868-G rs5982533-G rs6044777-A rs2839619-G rs2839619-G rs7499892-A |
0.25 0.31 0.13 0.23 0.16 0.15 0.17 0.24 0.11 0.28 0.28 0.08 0.22 0.17 0.40 0.40 0.16 |
1 x 10-9 (uric acid) 6 x 10-7 (LDL cholesterol) 2 x 10-6 (triglycerides) 2 x 10-6 (HDL cholesterol) 2 x 10-6 (fibrinogen) 3 x 10-6 (HDL cholesterol) 3 x 10-6 (fibrinogen) 3 x 10-6 (fibrinogen) 5 x 10-6 (total cholesterol) 6 x 10-6 (total cholesterol) 6 x 10-6 (triglycerides) 7 x 10-6 (albumin) 7 x 10-6 (triglycerides) 8 x 10-6 (fibrinogen) 8 x 10-6 (total cholesterol) 8 x 10-6 (LDL cholesterol) 9 x 10-6 (HDL cholesterol) |
.29 [0.21-0.37] umol/l decrease .12 [0.11-0.23] mmol/L decrease .28 [0.17-0.39] mmol/L decrease .2 [0.12-0.28] mmol/L increase .26 [0.15-0.37] g/L decrease .26 [0.15-0.37] mmol/L decrease .25 [0.15-0.35] g/L increase .23 [0.13-0.33] g/L decrease .24 [0.14-0.34] mmol/L decrease .17 [0.10-0.24] mmol/L decrease .16 [0.09-0.23] mmol/L decrease .04 [0.21-0.51] g/L decrease .23 [0.13-0.33] mmol/L decrease .23 [0.13-0.33] g/L increase .13 [0.07-0.19] mmol/L increase .13 [0.08-0.18] mmol/L increase .24 [0.14-0.34] mmol/L decrease |
Illumina [316,730] |
N |
02/25/09 |
Timpson January 30, 2009 Hum Mol Genet Common variants in the region around Osterix are associated with bone mineral density and growth in childhood
|
Bone mineral density |
1,418 children, 135 adults |
3,875 children |
NR |
NR |
NR |
NR |
NS |
NR |
Illumina [up to 315,807] |
N |
02/28/09 |
Ferrucci January 29, 2009 Am J Hum Genet Common variation in the beta-carotene 15,15'-monooxygenase 1 gene affects circulating levels of carotenoids: a genome-wide association study
|
Plasma carotenoid and tocopherol levels |
1,191 individuals |
2,751 individuals |
16q23.2 11q23.3 |
BCMO1 APOA5 |
rs6564851-G rs12272004-A |
0.39 0.07 |
2 x 10-24 (beta-carotene) 8 x 10-10 (alpha-tocopherol) |
.15 [0.120-0.177] umol/L increase .07 [0.049-0.095] umol/L increase |
Illumina [~500,451] (pooled) |
N |
02/26/09 |
Yang January 28, 2009 JAMA Genome-wide interrogation of germline genetic variation associated with treatment response in childhood acute lymphoblastic leukemia
|
Treatment response for acute lymphoblastic leukemia |
487 children |
NR |
10p12.33 2q33.1 4q31.21 20q13.12 7p14.2 7p21.2 10q26.12 11p15.1 6q25.3 5p13.2 10p14 11q21 |
ST8SIA6 C2orf47 IL15 NCOA3 ELMO1 DGKB intergenic intergenic intergenic LMBRD2 Intergenic MAML2 |
rs359312-T rs1569175-T rs17007695-C rs6125048-T rs4723619-C rs6971925-T rs2901286-A rs7128311-C rs35229355-T rs267759-A rs10508343-A rs7115578-A |
0.04 0.11 0.10 0.04 0.07 0.02 0.03 0.03 0.03 0.05 0.04 0.64 |
9 x 10-8 9 x 10-7 9 x 10-7 2 x 10-6 3 x 10-6 3 x 10-6 4 x 10-6 5 x 10-6 5 x 10-6 7 x 10-6 8 x 10-6 8 x 10-6 |
3.91 [1.52-10.10] 2.73 [1.52-4.93] 2.67 [1.53-4.68] 2.73 [1.08-6.88] 3.01 [1.50-6.03] 13.91 [2.72-70.92] 4.66 [1.58-13.7] 13.9 [2.72-71.1] 7.24 [2.46-21.30] 3.23 [1.52-6.87] 3.81 [1.40-10.40] 1.86 [1.23-2.79] |
Affymetrix [476,796] |
N |
02/06/09 |
Nair January 25, 2009 Nat Genet Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways
|
Psoriasis |
1,359 cases, 1,400 controls |
5,048 cases, 5,041 controls |
6p21.33 5q33.3 5q33.1 5q31.1 6q23.3 12q13.2 1p31.3 9q34.13 |
HLA-C IL12B TNIP1 IL13 TNFAIP3 IL23A, STAT2 IL23R TSC1 |
rs12191877-T rs2082412-G rs17728338-A rs20541-G rs610604-G rs2066808-A rs2201841-G rs1076160-T |
0.15 0.80 0.054 0.79 0.32 0.93 0.30 0.48 |
1 x 10-100 2 x 10-28 1 x 10-20 5 x 10-15 9 x 10-12 1 x 10-9 3 x 10-8 6 x 10-6 |
2.64 1.44 1.59 1.27 1.19 1.34 1.13 1.09 |
Perlegen [~2.5 million] (imputed) |
N |
02/07/09 |
Zhang January 25, 2009 Nat Genet Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21
|
Psoriasis |
1,139 Chinese cases, 1,132 Chinese controls |
5,721 Chinese cases, 7,340 Chinese controls |
1q21.3 5q33.3 6p21.33 |
LCE3D, LCE3A IL12B MHC |
rs4085613-A rs3213094-A rs1265181-? |
0.43 0.45 NR |
7 x 10-30 3 x 10-26 |
1.32 [1.25-1.39] 1.28 [1.23-1.35] 22.62 |
Illumina [494,902] |
N |
02/26/09 |
Otowa January 23, 2009 J Hum Genet Genome-wide association study of panic disorder in the Japanese population
|
Panic disorder |
200 Japanese cases, 200 Japanese controls |
NR |
12p13.31 1q32.1 17q25.1 12q13.13 13q32.1 6q25.1 8p21.1 1p13.3 3p26.1 12q12 19q13.33 6p12.3 14q23.1 20p13 5q21.1 12q24.33 21q21.1 |
TMEM16B PKP1 SDK2 CALCOCO1 Intergenic PLEKHG1 CLU Intergenic GRM7 Intergenic Intergenic TNFRSF21 Intergenic SMOX Intergenic Intergenic USP25 |
rs12579350-? rs860554-? rs3816995-? rs941184-? rs9302001-? rs9372078-? rs17466684-? rs12061304-? rs3749380-? rs2731006-? rs3810265-? rs2103868-? rs4901869-? rs16989303-? rs4702982-? rs7299940-? rs2823455-? |
0.01 0.05 0.03 0.03 0.20 0.11 0.09 0.10 0.25 0.29 0.07 0.26 0.02 0.21 0.16 0.29 0.03 |
4 x 10-9 5 x 10-8 2 x 10-7 3 x 10-7 3 x 10-7 5 x 10-7 7 x 10-7 1 x 10-6 2 x 10-6 4 x10-6 4 x 10-6 5 x 10-6 6 x 10-6 6 x 10-6 6 x 10-6 7 x 10-6 9 x 10-6 |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix [253,903] |
N |
02/25/09 |
Ling January 22, 2009 Adiponectin levels Genome-wide Linkage and Association Anaylses to Identify Genes Influencing Adiponectin Levels: The GEMS Study
|
Adiponectin Levels |
997 cases, 989 controls |
NR |
3q27.3 5q35.2 |
ADIPOQ Intergenic |
rs6773957-A rs7722022-? |
0.37 NR |
5 x 10-8 9 x 10-6 |
NR NR |
Affymetrix [398,625] |
N |
03/03/09 |
Meyre January 18, 2009 Nat Genet Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations
|
Obesity |
695 obese adults, 685 obese children, 731 lean adults, 685 lean children |
1,171 obese adults, 896 obese children, 1,114 lean adults, 1,297 lean children, 4,417 adults, 5,291 children |
16q12.2 18q21.32 16q23.2 10p13 18q11.2 |
FTO MC4R MAF PTER NPC1 |
rs1421085-C rs17782313-C rs1424233-A rs10508503-C rs1805081-A |
0.40 0.18 0.43 0.91 0.56 |
1 x 10-28 (children) 5 x 10-15 (children) 4 x 10-13 (children) 2 x 10-7 (children) 3 x 10-7 (children) |
1.39 [1.27-1.51] 1.22 [1.05-1.40] 1.12 [1.00-1.24] 1.56 [1.10-2.78] 1.33 [1.08-1.75] |
Illumina [308,846] |
N |
01/21/09 |
Tanaka January 16, 2009 PLoS Genet Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study
|
Plasma levels of polyunsaturated fatty acids |
1,210 individuals |
1,076 individuals |
NR |
NR |
NR |
NR |
NS |
NR |
Illumina [495,343] |
N |
02/27/09 |
Carrasquillo January 11, 2009 Nat Genet Genetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer's disease
|
Alzheimer's disease |
844 cases, 1,255 controls |
1,547 cases, 1,209 controls |
Xq21.31 |
PCDH11X |
rs2573905-? |
0.46 |
2 x 10-7 |
1.29 [1.17-1.42] |
Illumina [313,504] |
N |
01/21/09 |
Burgner January 09, 2009 PLoS Genet A genome-wide association study identifies novel and functionally related susceptibility loci for Kawasaki disease
|
Kawasaki disease |
107 cases, 134 controls |
583 cases, 1,357 family members |
3q26.31 16q22.3 |
NAALADL2 ZFHX3 |
rs17531088-T rs7199343-T |
0.44 0.30 |
1 x 10-6 2 x 10-6 |
1.43 [1.32-1.53] 1.56 [1.33-1.92] |
Affymetrix [223,922] |
N |
02/25/09 |
Feulner January 07, 2009 Mol Psychiatry Examination of the current top candidate genes for AD in a genome-wide association study
|
Alzheimer's disease |
491 cases, 479 controls |
NR |
19q13.32 |
TOMM40, APOE |
rs157580-? |
NR |
1 x 10-40 |
NR |
Illumina [~550,000] |
N |
01/21/09 |
Ober January 07, 2009 J Lipid Res Genome-wide association study of plasma Lp(a)levels Identifies multiple genes on chromosome 6q
|
Plasma Lp (a) levels |
357 individuals |
1,054 individuals |
6q25.3 |
LPA |
rs6919346-? |
0.16 |
4 x 10-11 |
.66 [mg/dl decrease] |
Affymetrix [290,327] |
N |
01/21/09 |
Silverberg January 04, 2009 Nat Genet Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study
|
Ulcerative colitis |
1,022 cases, 2,503 controls |
1,387 cases, 1,115 controls |
6p21.32 1p36.13 12q15 1p36.13 1p31.3 1p31.3 12q15 7q31.1 9q21.32 7q31.1 7q31.1 7q31.1 |
BTNL2, HLA-DRA, HLA-DRB5, HLA-DRB1, HLA-DQA1, HLA-DQB1 OTUD3, PLA2G2E IFNG, IL26, IL22 RNF186 IL23R IL23R IL26 SLC26A3, DLD, LAMB1 Intergenic Intergenic SLC26A3, DLD, LAMB1 SLC26A3, DLD, LAMB1 |
rs2395185-? rs6426833-G rs1558744-A rs3806308-? rs10889677-A rs11209026-? rs2870946-G rs4598195-? rs668853-G rs4730273-? rs2158836-A rs4730276-? |
0.67 0.54 0.38 0.63 0.30 0.93 0.055 0.54 0.39 0.70 0.35 0.39 |
1 x 10-16 5 x 10-13 3 x 10-12 7 x 10-9 1 x 10-8 1 x 10-8 5 x 10-7 1 x 10-6 2 x 10-6 5 x 10-6 7 x 10-6 9 x 10-6 |
1.52 1.37 1.35 1.28 1.29 1.79 1.54 1.23 1.2 1.22 1.21 1.22 |
Illumina [280,748] |
N |
01/21/09 |
Beecham January 03, 2009 Am J Hum Genet Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease
|
Alzheimer's disease |
492 cases, 496 controls |
238 cases, 220 controls |
12q13.11 19q13.31 1q42.2 |
FAM113B ZNF224 DISC1 |
rs11610206-? rs2061333-? rs12044355-? |
NR NR NR |
3 x 10-7 2 x 10-6 9 x 10-6 |
NR NR NR |
Illumina [~2.5 million] (imputed) |
N |
02/27/09 |
Hinks January 01, 2009 Arthritis Rheum Identification of a novel susceptibility locus for juvenile idiopathic arthritis by genome-wide association analysis
|
Juvenile idiopathic arthritis |
279 cases, 184 controls |
up to 654 cases, 1,847 controls |
1p13.1 |
VTCN1 |
rs12046117-? |
0.09 |
1 x 10-6 |
1.58 [1.29-1.94] |
Affymetrix [88,862] |
N |
01/16/09 |
Limou January 01, 2009 J Infect Dis Genomewide Association Study of an AIDS-Nonprogression Cohort Emphasizes the Role Played by HLA Genes (ANRS Genomewide Association Study 02).
|
AIDS progression |
275 HIV positive patients, 1,438 controls |
626 patients |
6p21.33 6p21.33 6p21.33 |
HCP5, MICB, MCCD1, BAT1, LTB, TNF HLA-C ZNRD1, RNF39 |
rs2395029-G rs10484554-T rs8321-G |
0.03 0.13 NR |
3 x 10-19 6 x 10-8 5 x 10-7 |
3.47 [2.39-5.04] NR NR |
Illumina [291,119] |
N |
02/26/09 |
Sun January 01, 2009 Cancer Res Sequence variants at 22q13 are associated with prostate cancer risk
|
Prostate cancer |
1,235 aggressive cases, 1,599 controls |
3,629 aggressive cases, 4,255 non-aggressive cases, 5,738 controls |
22q13.1 |
TNRC6B |
rs9623117-C |
0.21 |
5 x 10-7 |
1.18 [1.11-1.26] |
Affymetrix and Illumina [~2 million] (imputed) |
N |
01/14/09 |
Zhang December 31, 2008 Mol Psychiatry Singleton deletions throughout the genome increase risk of bipolar disorder
|
Bipolar disorder |
1,001 cases, 1,033 controls |
NR |
Pending |
Pending |
Pending |
Pending |
Pending |
Pending |
Affymetrix [51,757 CNVs] |
Y |
01/14/09 |
Wang December 29, 2008 Proc Natl Acad Sci USA Whole-genome association study identifies STK39 as a hypertension susceptibility gene
|
Blood pressure |
542 individuals |
6,583 individuals |
2q24.3 |
STK39 |
rs6749447-G |
0.28 |
2 x 10-7 |
1.9 [1.2-2.6] mm Hg increase in DBP |
Affymetrix [79,447] |
N |
01/14/09 |
Meisinger December 24, 2008 Am J Hum Genet A genome-wide association study identifies three loci associated with mean platelet volume
|
Mean platelet volume |
1,606 individuals |
8,617 individuals |
12q24.31 17q11.2 3p14.3 |
WDR66 TAOK1 ARHGEF3 |
rs7961894-A rs2138852-C rs12485738-A |
0.11 0.47 0.30 |
7 x 10-48 7 x 10-28 4 x 10-27 |
.03 [0.03-0.04] per log fl increase .02 [0.01-0.02] per log fl decrease .02 [0.01-0.02] per log fl increase |
Affymetrix [335,152] |
N |
02/04/09 |
Muglia December 23, 2008 Mol Psychiatry Genome-wide association study of recurrent major depressive disorder in two European case-control cohorts
|
Major depressive disorder |
1,359 cases, 1,782 controls |
NR |
12p13.32 |
CCND2 |
rs4238010-G |
0.02 |
6 x 10-6 |
1.72 |
Illumina and Affymetrix [494,678] (imputed) |
N |
01/14/09 |
Benyamin December 17, 2008 Am J Hum Genet Variants in TF and HFE explain approximately 40% of genetic variation in serum-transferrin levels
|
Serum markers of iron status |
411 family members |
NR |
3q22.1 6q22.33 14q23.2 |
TF RSPO3 Q6ZUR9 |
rs1830084-A rs972275-? rs973968-? |
0.36 NR NR |
1 x 10-9 (serum transferrin) 2 x 10-6 (serum ferritin) 3 x 10-6 (transferrin saturation) |
.43 [NR] SD increase NR NR |
Affymetrix [100,846] |
N |
01/14/09 |
"
|
Serum markers of iron status |
459 twin pairs |
NR |
3q22.1 6p22.1 6p22.1 6p22.1 6p22.1 6p22.1 6p22.2 6p22.2 6p22.2 3q22.1 6q25.3 11p14.3 3q22.1 Xq24 2p14 6p22.1 3q22.1 6p22.2 22q12.3 7p14.1 18q22.2 5p12 5q14.1 6p22.2 |
TF HFE HFE HFE HIST1H2BJ BTN1A1 LRRC16 SLC17A1 LRRC16 TOPBP1 WTAP LUZP2 TF KLHL13 Q6ZNG6 TRIM38 TF LRRC16A TMPRSS6 Q4KMW4 Intergenic GHR ARSB SCGN |
rs3811647-? rs1800562-? rs1800562-? rs1800562-? rs13194491-? rs13194984-? rs2274089-? rs17270561-? rs2274089-? rs2718812-? rs4516970-? rs10500991-? rs1867504-? rs2430212-? rs1457451-? rs12216125-? rs1799852-? rs2274089-? rs4820268-? rs29880-? rs2660917-? rs13188386-? rs2052550-? rs932316-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR 0.09 NR NR NR NR NR NR NR |
3 x 10-15 (serum transferrin) 4 x 10-15 (transferrin saturation) 4 x 10-11 (serum iron) 1 x 10-10 (serum transferrin) 1 x 10-8 (transferrin saturation) 6 x 10-8 (transferrin saturation) 3 x 10-7 (serum transferrin) 5 x 10-7 (transferrin saturation) 8 x 10-7 (transferrin saturation) 1 x 10-6 (serum transferrin) 1 x 10-6 (serum ferritin) 2 x 10-6 (serum transferrin) 2 x 10-6 (serum transferrin) 2 x 10-6 (serum transferrin) 3 x 10-6 (transferrin saturation) 4 x 10-6 (transferrin saturation) 5 x 10-6 (serum transferrin) 5 x 10-6 (serum iron) 6 x 10-6 (serum iron) 7 x 10-6 (serum ferritin) 8 x 10-6 (serum ferritin) 8 x 10-6 (transferrin saturation) 8 x 10-6 (serum ferritin) 9 x 10-6 (transferrin saturation) |
.46 [0.34-0.58] SD decrease NR .66 [0.46-0.86] SD increase .68 [0.48-0.88] SD decrease NR NR NR NR NR NR NR NR NR NR NR NR .43 [0.25-0.61] SD decrease NR NR NR NR NR NR NR |
Illumina [315,887] |
N |
01/14/09 |
Pollin December 17, 2008 Science A null mutation in human APOC3 confers a favorable plasma lipid profile and apparent cardioprotection
|
Triglycerides |
809 individuals |
698 individuals |
11q23.3 |
APOA1, APOC3, APOA4, APOA5, DSCAML1 |
rs10892151-A |
0.028 |
3 x 10-29 |
NR |
Affymetrix [381,934] |
N |
01/16/09 |
Styrkarsdottir December 14, 2008 Nat Genet New sequence variants associated with bone mineral density
|
Bone mineral density (hip) |
6,865 individuals |
8,510 individuals |
1p36.12 6q25.1 17q21.31 11p11.2 17q21.31 Xq21.2 2q12.1 3p22.1 |
Intergenic ESR1 SOST LRP4 C17orf53 NR NR NR |
rs7524102-A rs1038304-G rs1513670-A rs1007738-A rs227584-T rs2710057-T rs6735786-C rs10490823-G |
0.82 0.47 0.37 0.77 0.73 0.67 0.64 0.46 |
1 x 10-16 4 x 10-10 2 x 10-8 7 x 10-7 9 x 10-7 1 x 10-6 2 x 10-6 9 x 10-6 |
.15 [0.11-0.18] SD decrease .08 [0.06-0.11] SD decrease .08 [0.05-0.10] SD decrease .08 [0.05-0.11] SD decrease .07 [0.04-0.10] SD decrease .07 [0.04-0.09] SD decrease .07 [0.04-0.09] SD decrease .06 [0.03-0.09] SD decrease |
Illumina [305,051] |
N |
01/16/09 |
"
|
Bone mineral density (spine) |
6,865 individuals |
8,510 individuals |
13q14.11 6q25.1 1p36.12 12q13.13 2p16.2 2p22.2 21q11.2 |
RANKL C6orf97, ESR1 Intergenic OSX SPTBN1 LOC344382 NR |
rs9594759-T rs6929137-A rs6696981-G rs10876432-A rs11898505-G rs4670779-T rs1006899-A |
0.62 0.30 0.86 0.73 0.68 0.32 0.84 |
2 x 10-17 2 x 10-10 2 x 10-8 1 x 10-7 4 x 10-6 4 x 10-6 6 x 10-6 |
.12 [0.09-0.15] SD decrease .1 [0.07-0.13] SD decrease .12 [0.08-0.16] SD decrease .08 [0.05-0.11] SD decrease .07 [0.04-0.10] SD decrease .07 [0.04-0.10] SD decrease .09 [0.05-0.13] SD decrease |
Illumina [305,051] |
N |
01/15/09 |
Thorleifsson December 14, 2008 Nat Genet Genome-wide association yields new sequence variants at seven loci that associate with measures of obesity
|
Body mass index |
80,969 individuals |
11,036 individuals |
16q12.2 2p25.3 16q12.2 18q21.32 19q13.11 1p31.1 3q27.2 16p11.2 11p14.1 11p14.1 1q25.2 12q13.13 1p21.3 11p14.1 |
FTO TMEM18 FTO MC4R KCTD15, CHST8 NEGR1 SFRS10, ETV5, DGKG SH2B1, ATP2A1 BDNF BDNF SEC16B, RASAL2 BCDIN3D, FAIM2 NR BDNF |
rs8050136-A rs7561317-G rs6499640-A rs12970134-A rs29941-C rs2568958-A rs7647305-C rs7498665-G rs6265-G rs925946-T rs10913469-C rs7138803-A rs10783050-C rs7481311-T |
0.41 0.84 0.41 0.30 0.69 0.58 0.77 0.44 0.85 0.34 0.20 0.37 0.36 0.24 |
1 x 10-47 4 x 10-17 4 x 10-13 1 x 10-12 7 x 10-12 1 x 10-11 7 x 10-11 3 x 10-10 5 x 10-10 9 x 10-10 6 x 10-8 1 x 10-7 4 x 10-6 8 x 10-6 |
8.04 [6.96-9.12] % SD 6.12 [4.69-7.55] % SD 5.25 [3.82-6.68] % SD 4.38 [3.16-5.60] % SD 4.18 [2.98-5.38] % SD 3.77 [2.67-4.87] % SD 4.42 [3.09-5.75] % SD 3.63 [2.49-4.77] % SD 4.58 [3.07-6.09] % SD 3.85 [2.62-5.08] % SD 3.36 [2.14-4.58] % SD 3.28 [2.06-4.50] % SD 2.6 [1.50-3.70] % SD 3.15 [1.78-4.52] % SD |
Illumina [305,846] |
N |
01/15/09 |
"
|
Weight |
80,969 individuals |
11,036 individuals |
16q12.2 2p25.3 16q12.2 18q21.32 16p11.2 11p14.1 3q27.2 19q13.11 1q25.2 1p31.1 6p21.33 11p14.1 12q13.13 13q12.2 1p21.3 5q23.2 11p14.1 |
FTO TMEM18 FTO MC4R SH2B1, ATP2A1 BDNF SFRS10, ETV5, DGKG KCTD15, CHST8 SEC16B, RASAL2 NEGR1 AIF1, NCR3 BDNF BCDIN3D, FAIM2 NR NR NR BDNF |
rs8050136-A rs7561317-G rs6499640-A rs12970134-A rs7498665-G rs925946-T rs7647305-C rs29941-C rs10913469-C rs2568958-A rs2844479-T rs6265-G rs7138803-A rs7336332-G rs1973993-C rs2115172-A rs7481311-T |
0.41 0.84 0.65 0.30 0.44 0.34 0.77 0.69 0.20 0.58 0.68 0.85 0.37 0.15 0.63 0.57 0.24 |
5 x 10-36 2 x 10-18 6 x 10-14 5 x 10-13 1 x 10-9 4 x 10-9 4 x 10-9 5 x 10-9 1 x 10-8 2 x 10-8 2 x 10-8 2 x 10-7 2 x 10-7 1 x 10-6 1 x 10-6 2 x 10-6 3 x 10-6 |
7.05 [5.95-8.15] % SD 6.47 [5.02-7.92] % SD 5.5 [4.07-6.93] % SD 4.66 [3.41-5.91] % SD 3.69 [2.51-4.87] % SD 3.8 [2.55-5.05] % SD 4 [2.67-5.33] % SD 3.73 [2.48-4.98] % SD 3.82 [2.51-5.13] % SD 3.37 [2.19-4.55] % SD 3.58 [2.33-4.83] % SD 4 [2.47-5.53] % SD 3.27 [2.05-4.49] % SD 4.01 [2.40-5.62] % SD 2.71 [1.61-3.81] % SD 2.71 [1.59-3.83] % SD 3.5 [2.03-4.97] % SD |
Illumina [305,846] |
N |
01/12/09 |
Willer December 14, 2008 Nat Genet Six new loci associated with body mass index highlight a neuronal influence on body weight regulation
|
Body mass index |
32,387 individuals |
59,092 individuals |
16q12.2 2p25.3 18q21.32 4p13 16p11.2 11p11.2 19q13.11 1p31.1 11p15.4 20p12.3 15q25.2 |
FTO TMEM18 MC4R GNPDA2 SH2B1 MTCH2 KCTD15 NEGR1 STK33 BMP2 RKHD3 |
rs9939609-A rs6548238-C rs17782313-C rs10938397-G rs7498665-G rs10838738-G rs11084753-G rs2815752-A rs10769908-C rs2145270-T rs12324805-C |
0.41 0.84 0.21 0.45 0.41 0.34 0.67 0.62 0.53 0.65 0.31 |
4 x 10-51 1 x 10-18 5 x 10-18 3 x 10-16 5 x 10-11 5 x 10-9 2 x 10-8 6 x 10-8 1 x 10-6 6 x 10-6 7 x 10-6 |
.33 [0.27-0.39] kg/m2 increase .26 [0.19-0.34] kg/m2 increase .2 [0.12-0.28] kg/m2 increase .19 [0.13-0.25] kg/m2 .15 [0.08-0.21] kg/m2 increase .07 [0.01-0.13] kg/m2 increase .06 [-0.01-0.13] kg/m2 increase .1 [0.04-0.16] kg/m2 increase NR NR NR |
Illumina and Affymetrix
[2,399,588]
(imputed) |
N |
02/05/09 |
Mead December 11, 2008 Lancet Neurol Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study
|
Creutzfeldt-Jakob disease |
117 CJD cases, 3,083 controls |
506 sCJD cases, 28 iCJD cases, 151 Kuru cases, 125 Kuru-resistant cases, up to 1,137 controls |
20p13 8q21.13 |
PRNP STMN2 |
rs1799990-A rs1460163-A |
NR NR |
2 x 10-21 6 x 10-8 |
NR NR |
Affymetrix [288,908] |
N |
01/06/09 |
Sullivan December 09, 2008 Mol Psychiatry Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo
|
Major depressive disorder |
1,738 cases, 1,802 controls |
6,079 cases, 5,893 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Perlegen [435,291] |
N |
01/12/09 |
Aulchenko December 07, 2008 Nat Genet Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts
|
Cholesterol, total |
22,562 individuals |
NR |
19p13.2 2p24.1 1p13.3 19q13.32 5q13.3 19p13.11 1p31.3 18q21.1 2p21 11q12.2 1p36.11 8q24.13 15q22.1 11q23.3 7p15.3 |
LDLR APOB CELSR2 TOMM40, APOE HMGCR NCAN DOCK7 LIPG ABCG5 FADS2, FADS3 TMEM57 TRIB1 LIPC APOA1, APOA4, APOA5, APOC3 DNAH11 |
rs2228671-G rs693-G rs646776-G rs2075650-G rs3846662-G rs2304130-G rs10889353-C rs4939883-G rs6756629-G rs174570-G rs10903129-G rs6987702-G rs1532085-G rs12272004-C rs12670798-G |
0.88 0.52 0.22 0.15 0.44 0.07 0.32 0.83 0.92 0.83 0.54 0.29 0.59 0.93 0.24 |
9 x 10-24 9 x 10-23 9 x 10-22 3 x 10-19 3 x 10-19 2 x 10-15 4 x 10-12 2 x 10-11 2 x 10-11 2 x 10-10 5 x 10-10 3 x 10-9 4 x 10-7 7 x 10-7 9 x 10-7 |
.16 [NR] SD increase .1 [NR] SD decrease .13 [NR] SD decrease .14 [NR] SD increase .09 [NR] SD increase .15 [NR] SD decrease .08 [NR] SD decrease .07 [NR] SD increase .15 [NR] SD increase .09 [NR] SD increase .06 [NR] SD increase .07 [NR] SD increase .05 [NR] SD decrease .11 [NR] SD decrease .06 [NR] SD increase |
Illumina and Affymetrix [up to ~600,000] |
N |
01/12/09 |
"
|
HDL cholesterol |
21,412 individuals |
NR |
16q13 15q22.1 8p21.3 16q22.1 9q31.1 18q21.1 11p11.2 2p24.1 19q13.32 11q12.2 |
CETP LIPC LPL CTCF, PRMT8 ABCA1 LIPG MADD, FOLH1 APOB TOMM40, APOE FADS2, FADS3 |
rs1532624-C rs1532085-G rs2083637-G rs2271293-G rs3905000-G rs4939883-G rs7395662-G rs6754295-C rs157580-G rs174570-G |
0.57 0.59 0.26 0.87 0.86 0.83 0.61 0.25 0.33 0.83 |
9 x 10-94 1 x 10-35 6 x 10-18 8 x 10-16 9 x 10-13 2 x 10-11 6 x 10-11 4 x 10-8 4 x 10-7 4 x 10-6 |
.21 [NR] SD decrease .13 [NR] SD decrease .11 [NR] SD increase .13 [NR] SD decrease .11 [NR] SD increase .1 [NR] SD increase .07 [NR] SD decrease .07 [NR] SD increase .06 [NR] SD increase .06 [NR] SD increase |
Illumina and Affymetrix [up to ~600,000] |
N |
01/12/09 |
"
|
LDL cholesterol |
17,797 individuals |
NR |
1p13.3 19q13.32 2p24.1 19p13.2 11q12.2 11q23.3 5q13.3 2p21 7p15.3 19p13.11 8q24.13 1p31.3 |
CELSR2 TOMM40, APOE APOB LDLR FADS2, FADS3 APOA1, APOA4, APOA5, APOC3 HMGCR ABCG5 DNAH11 NCAN TRIB1 DOCK7 |
rs646776-G rs157580-G rs693-G rs2228671-G rs174570-G rs12272004-C rs3846662-G rs6756629-G rs12670798-G rs2304130-G rs6987702-G rs10889353-C |
0.22 0.33 0.52 0.88 0.83 0.93 0.44 0.92 0.24 0.07 0.29 0.32 |
8 x 10-23 2 x 10-19 4 X 10-17 4 x 10-14 4 x 10-13 5 X 10-13 2 x 10-11 3 x 10-10 6 x 10-9 3 x 10-6 3 x 10-6 8 x 10-6 |
.16 [NR] SD decrease .11 [NR] SD decrease .1 [NR] SD decrease .14 [NR] SD increase .11 [NR] SD increase .18 [NR] SD decrease .08 [NR] SD increase .16 [NR] SD increase .09 [NR] SD increase .12 [NR] SD decrease .07 [NR] SD increase .06 [NR] SD decrease |
Illumina and Affymetrix [up to 600,000] |
N |
01/12/09 |
"
|
Triglycerides |
17,815 individuals |
NR |
2p23.3 8p21.3 11q23.3 7q11.23 1p31.3 19q13.32 2p24.1 19p13.11 |
GCKR LPL APOA1, APOA4, APOA5, APOC3 MLXIPL DOCK7 TOMM40, APOE APOB NCAN |
rs780094-G rs10096633-G rs12272004-C rs2240466-G rs1167998-C rs439401-G rs6754295-C rs2304130-G |
0.63 0.88 0.93 0.87 0.32 0.68 0.25 0.07 |
3 x 10-20 2 x 10-18 5 X 10-13 1 x 10-12 2 x 10-12 2 x 10-9 3 x 10-8 3 x 10-6 |
.1 [NR] SD decrease .17 [NR] SD increase .18 [NR] SD decrease .14 [NR] SD increase .09 [NR] SD decrease .09 [NR] SD increase .08 [NR] SD decrease .1 [NR] SD decrease |
Illumina and Affymetrix [up to 600,000] |
N |
01/07/09 |
Bouatia-Naji December 07, 2008 Nat Genet A variant near MTNR1B is associated with increased fasting plasma glucose levels and type 2 diabetes risk
|
Fasting plasma glucose |
2,151 individuals |
6,332 cases, 9,132 controls |
11q21 |
MTNR1B |
rs1387153-T |
0.29 |
2 x 10-36 |
.07 [0.05-0.08] mmol/l increase |
Illumina [308,846] |
N |
01/12/09 |
Kathiresan December 07, 2008 Nat Genet Common variants at 30 loci contribute to polygenic dyslipidemia
|
HDL cholesterol |
19,840 individuals |
Up to 20,623 individuals |
16q13 8p21.3 15q22.1 18q21.1 16q22.1 11q23.3 11q12.2 12q24.11 9p22.3 20q13.2 9q31.1 20q13.12 19p13.2 1q42.13 |
CETP LPL LIPC LIPG LCAT APOA1, APOC3, APOA4, APOA5 FADS1, FADS2, FADS3 MMAB,MVK TTC39B HNF4A ABCA1 PLTP ANGPTL4 GALNT2 |
rs173539-T rs12678919-G rs10468017-T rs4939883-T rs2271293-A rs964184-G rs174547-C rs2338104-C rs471364-C rs1800961-T rs1883025-T rs7679-C rs2967605-T rs4846914-G |
0.32 0.10 0.30 0.17 0.11 0.14 0.33 0.45 0.12 0.03 0.26 0.19 0.16 0.40 |
4 x 10-75 2 x 10-34 8 x 10-23 7 x 10-15 9 x 10-13 1 x 10-12 2 x 10-12 1 x 10-10 3 x 10-10 8 x 10-10 1 x 10-9 4 x 10-9 1 x 10-8 4 x 10-8 |
.25 [0.21-0.29] SD increase .23 [0.17-0.29] SD increase .1 [0.06-0.14] SD increase .14 [0.10-0.18] SD decrease .07 [0.01-0.13] SD increase .17 [0.11-0.23] SD decrease .09 [0.05-0.13] SD decrease .07 [0.03-0.11] SD decrease .08 [0.02-0.14] SD decrease .19 [0.09-0.29] SD decrease .08 [0.04-0.12] SD decrease .07 [0.03-0.11] SD decrease .12 [0.04-0.20] SD decrease .05 [0.01-0.09] SD decrease |
Affymetrix and Illumina [~2,600,000] (imputed) |
N |
01/12/09 |
"
|
LDL cholesterol |
19,840 individuals |
Up to 20,623 individuals |
1p13.3 2p24.1 19q13.32 19p13.2 2p21 5q13.3 5q33.3 20q12 12q24.31 19p13.11 1p32.3 |
CELSR2, PSRC1, SORT1 APOB APOE, APOC1, APOC4, APOC2 LDLR ABCG8 HMGCR TIMD4, HAVCR1 MAFB HNF1A NCAN, CILP2, PBX4 PCSK9 |
rs12740374-T rs515135-T rs4420638-G rs6511720-T rs6544713-T rs3846663-T rs1501908-G rs6102059-T rs2650000-A rs10401969-C rs11206510-C |
0.21 0.20 0.16 0.10 0.32 0.38 0.37 0.32 0.36 0.06 0.19 |
2 x 10-42 5 x 10-29 4 x 10-27 2 x 10-26 2 x 10-20 8 x 10-12 1 x 10-11 4 x 10-9 2 x 10-8 2 x 10-8 4 x 10-8 |
.23 [0.19-0.27] SD decrease .16 [0.12-0.20] SD decrease .29 [0.17-0.41] SD increase .26 [0.18-0.34] SD increase .15 [0.11-0.19] SD increase .07 [0.03-0.11] SD increase .07 [0.03-0.11] SD decrease .06 [0.03-0.10] SD decrease .07 [0.03-0.11] SD increase .05 [-0.03-0.13] SD decrease .09 [0.05-0.13] SD decrease |
Affymetrix and Illumina [~2,600,000] (imputed) |
N |
01/12/09 |
"
|
Triglycerides |
19,840 individuals |
Up to 20,623 individuals |
11q23.3 8p21.3 2p23.3 8q24.13 7q11.23 11q12.2 2p24.1 19p13.11 20q13.12 8p23.1 1p31.3 |
APOA1, APOC3, APOA4, APOA5 LPL GCKR TRIB1 MLXIPL FADS1, FADS2, FADS3 APOB NCAN,CILP2,PBX4 PLTP XKR6, AMAC1L2 ANGPTL3 |
rs964184-G rs12678919-G rs1260326-T rs2954029-T rs714052-G rs174547-C rs7557067-G rs17216525-T rs7679-C rs7819412-G rs10889353-C |
0.14 0.10 0.45 0.44 0.12 0.33 0.22 0.07 0.19 0.48 0.33 |
4 x 10-62 2 x 10-41 2 x 10-31 3 x 10-19 3 x 10-15 2 x 10-14 9 x 10-12 4 x 10-11 7 x 10-11 3 x 10-8 3 x 10-7 |
.3 [0.24-0.36] SD increase .25 [0.19-0.31] SD decrease .12 [0.08-0.16] SD increase .11 [0.07-0.15] SD decrease .16 [0.10-0.22] SD decrease .06 [0.02-0.10] SD increase .08 [0.04-0.12] SD decrease .11 [0.05-0.17] SD decrease .07 [0.03-0.11] SD increase .04 [0.001-0.08] SD decrease .05 [0.01-0.09] SD decrease |
Affymetrix and Illumina [~2,600,000] (imputed) |
N |
01/12/09 |
Sabatti December 07, 2008 Nat Genet Genome-wide association analysis of metabolic traits in a birth cohort from a founder population
|
HDL cholesterol |
4,763 individuals |
NR |
16q13 15q22.1 16q22.1 11p11.2 17p13.3 |
CETP LIPC LCAT NR1H3 Intergenic |
rs3764261-A rs1532085-A rs255049-G rs7120118-G rs9891572-A |
0.28 0.44 0.22 0.42 0.16 |
7 x 10-29 2 x 10-10 3 x 10-8 4 x 10-8 2 x 10-7 |
.09 [0.08-0.11] mmol/l increase .05 [0.03-0.06] mmol/l increase .05 [0.03-0.07] mmol/l increase .04 [0.03-0.05] mmol/l increase .05 [0.048-0.051] mmol/l increase |
Illumina [329,091] |
N |
01/12/09 |
"
|
LDL cholesterol |
4,763 individuals |
NR |
1p13.3 2p24.1 19q13.32 11q12.2 19p13.2 1q32.2 Xq12 |
CELSR2, PSRC1, SORT1 APOB APO cluster FADS1, FADS2 LDLR CR1L AR |
rs646776-G rs693-A rs157580-G rs174546-G rs11668477-G rs4844614-A rs5031002-A |
0.21 0.41 0.29 0.44 0.18 0.32 0.02 |
2 x 10-12 3 x 10-11 5 x 10-8 1 x 10-7 2 x 10-7 2 x 10-7 2 x 10-7 |
.16 [0.11-0.20] mmol/l decrease .12 [0.09-0.16] mmol/l increase .11 [0.07-0.15] mmol/l decrease .96 [0.06-0.13] mmol/l decrease .13 [0.08-0.17] mmol/l decrease .1 [0.06-0.14] mmol/l increase .3 [0.18-0.41] mmol/l increase |
Illumina [329,091] |
N |
01/12/09 |
"
|
Other metabolic traits |
4,763 individuals |
NR |
1q23.2 12q24.31 2p23.3 2q24.3 2p24.1 8p21.3 11q21 7p21.2 10q23.31 15q14 1p31.3 |
CRP LEF1 GCKR G6PC2, ABCB11 APOB LPL MTNR1B Intergenic PANK1 Intergenic LEPR |
rs2794520-A rs2650000-A rs1260326-A rs560887-A rs673548-A rs10096633-A rs1447352-G rs10244051-C rs11185790-A rs2624265-G rs12753193-G |
0.36 0.45 0.35 0.31 0.27 0.098 0.42 0.46 0.21 0.42 0.45 |
3 x 10-22 (CRP) 3 x 10-11 (CRP) 4 x 10-10 (TG) 6 x 10-10 (GLU) 2 x 10-8 (TG) 5 x 10-8 (TG) 6 x 10-8 (GLU) 1 x 10-7 (GLU) 3 x 10-7 (INS) 4 x 10-7 (TG) 4 x 10-7 (CRP) |
.47 [0.32-0.62] mmol/l decrease .4 [0.25-0.55] mmol/l decrease .09 [0.06-0.12] mmol/l increase .06 [0.04-0.07] mmol/l decrease .08 [0.05-0.11] mmol/l decrease .12 [0.07-0.17] mmol/l decrease .05 [0.03-0.06] mmol/l decrease .05 [0.03-0.06] mmol/l increase .31 [0.18-0.44] mmol/l decrease .07 [0.04-0.10] mmol/l increase .13 [-0.02-0.27] mmol/l decrease |
Illumina [329,091] |
N |
05/07/09 |
Lasky-Su December 05, 2008 Am J Med Genet B Neuropsychiatr Genet Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations
|
Attention deficit hyperactivity disorder |
909 trios |
NR |
12p11.22 3p24.3 14q23.2 2q21.2 16q22.1 13q32.3 1q41 22q12.3 2q24.1 1p31.2 2p21 3p14.1 11p13 19q13.43 3p14.2 4q13.3 2q14.1 2q14.3 8q24.3 |
Intergenic Intergenic Intergenic FLJ34870 HAS3 CLYBL Intergenic Intergenic Intergenic Intergenic OXER1 FOXP1 Intergenic ZNF544 FHIT EREG Intergenic Intergenic NAPRT1 |
rs522958-? rs11719664-? rs1514928-? rs7577925-? rs8047014-? rs7992643-? rs1018040-? rs130575-? rs1918172-? rs4147141-? rs930421-? rs17651978-? rs10767942-? rs260461-? rs6791644-? rs1350666-? rs272000-? rs17367118-? rs2290416-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
1 x 10-6 (binary) 2 x 10-6 (count) 3 x 10-6 (binary) 3 x 10-6 (binary) 4 x 10-6 (binary) 5 x 10-6 (count) 5 x 10-6 (binary) 5 x 10-6 (binary) 5 x 10-6 (count) 6 x 10-6 (count) 6 x 10-6 (binary) 6 x 10-6 (count) 8 x 10-6 (count) 8 x 10-6 (binary) 8 x 10-6 (count) 8 x 10-6 (binary) 9 x 10-6 (count) 9 x 10-6 (count) 9 x 10-6 (count) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Perlegen [429,981] |
N |
05/07/09 |
"
|
Hyperactive-impulsive symptoms |
909 trios |
NR |
12p11.22 6p22.3 2p21 8p21.3 1p13.2 15q14 21q21.3 3q26.1 9p24.3 19q13.43 1q41 3q26.1 18q22.1 6p22.3 |
Intergenic Intergenic OXER1 LPL Intergenic MEIS2 GRIK1 Intergenic DMRT2 LOC390980 Intergenic Intergenic Intergenic Intergenic |
rs522958-? rs41441749-? rs6719977-? rs7816032-? rs11590090-? rs8041675-? rs363512-? rs6808138-? rs17641078-? rs2014572-? rs1018040-? rs6808138-? rs13353224-? rs1202199-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
8 x 10-7 (binary) 1 x 10-6 (binary) 2 x 10-6 (binary) 2 x 10-6 (count) 3 x 10-6 (count) 4 x 10-6 (count) 4 x 10-6 (binary) 5 x 10-6 (binary) 5 x 10-6 (binary) 7 x 10-6 (count) 8 x 10-6 (binary) 8 x 10-6 (binary) 9 x 10-6 (count) 9 x 10-6 (count) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Perlegen [429,981] |
N |
05/07/09 |
"
|
Inattentive symptoms |
909 trios |
NR |
9q22.32 8q21.11 11q22.3 15q26.1 16q12.1 9q21.31 15q25.1 7q36.3 13q12.12 1p31.2 12q24.22 15q13.1 1p31.2 16q23.1 8p11.21 |
Intergenic Intergenic Intergenic SLCO3A1 ZNF423 Intergenic IL16 Intergenic Intergenic Intergenic Intergenic Intergenic Intergenic Intergenic Intergenic |
rs11790994-? rs12679254-? rs10895959-? rs7495052-? rs17281813-? rs2769967-? rs7172689-? rs10227331-? rs17079773-? rs4650135-? rs478597-? rs1471225-? rs4147141-? rs13330107-? rs11786458-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
2 x 10-7 (binary) 2 x 10-6 (binary) 3 x 10-6 (binary) 3 x 10-6 (binary) 3 x 10-6 (binary) 3 x 10-6 (count) 4 x 10-6 (count) 4 x 10-6 (count) 5 x 10-6 (binary) 5 x 10-6 (binary) 8 x 10-6 (binary) 8 x 10-6 (count) 8 x 10-6 (binary) 9 x 10-6 (binary) 9 x 10-6 (binary) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Perlegen [429,981] |
N |
05/07/09 |
Lasky-Su December 05, 2008 Am J Med Genet B Neuropsychiatr Genet Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder
|
Attention deficit hyperactivity disorder (time to onset) |
930 trios |
NR |
6q15 2q36.3 7q31.1 11p15.1 3p22.3 9p23 3q29 20q13.13 14q23.1 5q35.3 8q23.3 |
Intergenic Intergenic Intergenic Intergenic Intergenic Intergenic Intergenic SULF2 Intergenic ADAMTS2 Intergenic |
rs806276-A rs1517484-C rs6968385-T rs874426-C rs9845475-G rs1325154-C rs3892715-C rs4810685-C rs1335515-C rs10039254-A rs17658378-A |
NR NR NR NR NR NR NR NR NR NR NR |
3 x 10-7 (later onset) 5 x 10-7 (earlier onset) 2 x 10-6 (earlier onset) 4 x 10-6 (earlier onset) 4 x 10-6 (later onset) 5 x 10-6 (later onset) 6 x 10-6 (earlier onset) 7 x 10-6 (earlier onset) 8 x 10-6 (earlier onset) 8 x 10-6 (later onset) 9 x 10-6 (later onset) |
NR NR NR NR NR NR NR NR NR NR NR |
Perlegen [429,981] |
N |
01/15/09 |
Timpson December 03, 2008 Diabetes Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data
|
Type 2 diabetes |
1,924 cases, 2,938 controls |
3,757 cases, 5,346 controls |
10q25.2 16q12.2 10q25.2 11p15.1 11p15.1 6p22.3 9p21.3 8q24.11 |
TCF7L2 FTO TCF7L2 KCNJ11 KCNJ11 CDKAL CDKN2B SLC30A8 |
rs7903146-? rs8050136-? rs7903146-? rs5219-? rs5219-? rs10946398-? rs10811661-? rs13266634-? |
NR NR NR NR NR NR NR NR |
9 x 10-30 (non-obese) 2 x 10-17 (obese) 6 x 10-16 (obese) 1 x 10-9 (non-obese) 5 x 10-7 (obese) 7 x 10-7 (non-obese) 7 x 10-7 (non-obese) 7 x 10-6 (non-obese) |
1.49 [1.39-1.59] 1.3 [1.23-1.39] 1.31 [1.23-1.40] 1.25 [1.16-1.34] 1.19 [1.11-1.27] 1.18 [1.11-1.26] 1.26 [1.15-1.38] 1.18 [1.10-1.27] |
Affymetrix [393,453] |
N |
01/12/09 |
Friedman December 01, 2008 Hum Mol Genet grm7 variants confer susceptibility to age-related hearing impairment
|
Hearing impairment |
846 cases, 846 controls |
63 cases, 67 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix [506,627] (pooled) |
N |
02/26/09 |
Prokopenko December 01, 2008 Nat Genet Variants in MTNR1B influence fasting glucose levels
|
Fasting plasma glucose |
35,812 individuals |
NR |
2q24.3 11q21 7p13 |
G6PC2 MTNR1B GCK |
rs560887-C rs10830963-G rs4607517-A |
0.70 0.28 0.18 |
1 x 10-57 3 x 10-50 1 x 10-25 |
.06 [0.05-0.07] mmol/l increase .07 [0.06-0.08] mmol/l increase .06 [0.05-0.07] mmol/l increase |
Affymetrix, Illumina and Perlegen [up to 2,557,249] (imputed) |
N |
12/24/08 |
Gieger November 28, 2008 PLoS Genet Genetics Meets Metabolomics: A Genome-Wide Association Study of Metabolite Profiles in Human Serum
|
Serum metabolites |
284 males |
NR |
2p14 10p11.21 11q12.2 13q31.3 15q22.1 3p25.3 6q25.1 6q26 15q26.1 4q13.1 7q31.1 12q24.21 6q12 3q28 16p13.2 3q22.3 |
PLEK ANKRD30A FADS1 GPC5 LIPC ATP2B2 C6orf71 PARK2 SV2B Intergenic Intergenic Intergenic Intergenic FGF12 A2BP1 Intergenic |
rs9309413-? rs1148259-? rs174548-? rs17267292-? rs4775041-? rs6807064-? rs1591830-? rs992037-? rs886144-? rs10517480-? rs10953730-? rs2194980-? rs9354308-? rs4453795-? rs9924951-? rs1382269-? |
0.45 0.42 0.28 0.28 0.28 0.29 0.32 0.35 0.38 0.31 0.35 0.33 0.37 0.41 0.41 0.47 |
2 x 10-9 (SM) 3 x 10-9 (SM) 5 x 10-8 (PC) 1 x 10-7 (Docosahexaonic acoid) 1 x 10-7 (PE) 1 x 10-7 (phenylalanine) 1 x 10-7 (sugar) 1 x 10-7 (Lysine) 2 x 10-7 (SM) 2 x 10-7 (PC) 2 x 10-7 (acylcarnitine) 3 x 10-7 (Tyrosine) 3 x 10-7 (serotonin) 4 x 10-7 (PC) 5 x 10-7 (PC) 5 x 10-7 (SM) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[187,454] |
N |
12/09/08 |
Terracciano November 24, 2008 Mol Psychiatry Genome-wide association scan for five major dimensions of personality
|
Personality dimensions |
3,972 individuals |
3,903 individuals |
19q13.31 4q12 2p22.1 Xp11.3 19q13.31 |
ZNF180 CLOCK THUMPD2 FUNDC1 ZNF180 |
rs644148-G rs6832769-A rs2540226-T rs6610953-G rs644148-G |
0.50 0.73 0.53 0.85 0.50 |
9 x 10-7 (openness) 2 x 10-6 (agreeableness) 3 x 10-6 (agreeableness) 6 x 10-6 (openness) 8 x 10-6 (extraversion) |
.15 [NR] SD increase .14 [NR] SD decrease .13 [NR] SD increase .15 [NR] SD increase .14 [NR] SD increase |
Affymetrix
[362,129] |
N |
01/07/09 |
Lei November 23, 2008 Hum Genet Genome-wide association scan for stature in Chinese: evidence for ethnic specific loci
|
Height |
618 Chinese individuals |
2,953 Chinese individuals |
9q22.23 |
ZNP510 |
rs10816533-C |
0.29 |
2 x 10-6 |
NR |
Affymetrix [281,533] |
N |
01/06/09 |
Potkin November 20, 2008 Schizophr Bull A Genome-Wide Association Study of Schizophrenia Using Brain Activation as a Quantitative Phenotype
|
Brain imaging in schizophrenia (interaction) |
64 cases, 74 cases |
NR |
5q23.2 2q37.3 3p12.3 14q32.32 3q26.2 6q16.2 |
CTXN3, SLC12A2 GPC1 ROBO2, ROBO1 TRAF3 TNIK POU3F2 |
rs245201-? rs1574192-? rs9836484-? rs10133111-? rs2088885-? rs9491640-? |
0.32 0.38 0.32 0.20 0.47 0.06 |
9 x 10-8 4 x 10-6 4 x 10-6 5 x 10-6 6 x 10-6 9 x 10-6 |
NR NR NR NR NR NR |
Illumina [302,783] |
N |
12/01/08 |
COGENT Study November 16, 2008 Nat Genet Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer
|
Colorectal cancer |
1,902 cases,
1,929 controls |
4,878 cases,
4,914 controls |
20p12.3 14q22.2 19q13.11 16q22.1 |
Intergenic BMP4 RHPN2 CDH1 |
rs961253-A rs4444235-C rs10411210-C rs9929218-A |
0.36 0.46 0.90 0.29 |
2 x 10-10 8 x 10-10 5 x 10-9 1 x 10-8 |
1.12 [1.08-1.16] 1.11 [1.08-1.15] 1.15 [1.10-1.20] 1.1 [1.06-1.12] |
Illumina
[up to 548,586] |
N |
01/16/09 |
Baranzini November 14, 2008 Hum Mol Genet Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis
|
Brain lesion load |
791 cases,
883 controls |
NR |
2q37.1 14q12 19p13.11 6q25.3 |
CHRND NUBPL CPAMD8 IGF2R |
rs2602397-? rs2039485-? rs11666377-? rs6917747-? |
0.45 0.22 0.14 0.15 |
4 x 10-6 6 x 10-6 7 x 10-6 7 x 10-6 |
NR NR NR NR |
Illumina
[551,642] |
N |
01/16/09 |
"
|
Multiple sclerosis |
978 cases,
883 controls |
NR |
20p13 13q31.3 12q12 8p23.2 3q23 9p22.2 2q14.2 3q24 4q35.1 2p25.1 |
C20orf46 GPC5 PDZRN4 CSMD1 SLC25A36 SH3GL2 EN1 ZIC1 MGC45800 DDEF2 |
rs397020-? rs9523762-? rs1458175-? rs1529316-? rs908821-? rs1755289-? rs651477-? rs1841770-? rs7672826-? rs1109670-? |
0.52 0.35 0.49 0.47 0.71 0.61 0.26 0.53 0.34 0.26 |
8 x 10-7 1 x 10-6 2 x 10-6 2 x 10-6 3 x 10-6 3 x 10-6 7 x 10-6 8 x 10-6 8 x 10-6 9 x 10-6 |
1.41 [NR] 1.36 [NR] 1.34 [NR] 1.36 [NR] 1.37 [NR] 1.35 [NR] 1.38 [NR] 1.34 [NR] 1.37 [NR] 1.38 [NR] |
Illumina
[551,642] |
N |
01/16/09 |
"
|
Multiple sclerosis (age of onset) |
978 cases,
883 controls |
NR |
11q14.2 7q22.1 8q13.3 18q21.31 9q21.13 1q25.2 5q33.2 2q21.2 |
RAB38 RELN KCNB2 WDR7 RFK C1orf125 SGCD FLJ34870 |
rs1386330-? rs17157903-? rs2116078-? rs1557351-? rs2842483-? rs12047808-? rs4704970-? rs1437898-? |
0.13 0.14 0.48 0.22 0.29 0.13 0.20 0.40 |
2 x 10-6 3 x 10-6 3 x 10-6 4 x 10-6 5 x 10-6 6 x 10-6 7 x 10-6 8 x 10-6 |
NR NR NR NR NR NR NR NR |
Illumina
[551,642] |
N |
01/16/09 |
"
|
Multiple sclerosis (severity) |
794 cases, 883 controls |
NR |
3q25.32 4q28.3 19q13.42 4q13.2 7p21.3 11q23.3 16q22.3 6p23 7q31.2 18q22.3 19p13.2 |
FLJ16641 LOC132321 NLRP11 CENPC1 C1GALT1 MGC13125 C16orf47 JARID2 MET CBLN2 ACP5 |
rs12638253-? rs1478091-? rs299175-? rs10518025-? rs10259085-? rs180358-? rs7191888-? rs6941421-? rs10243024-? rs337718-? rs7253363-? |
0.47 0.06 0.46 0.14 0.46 0.23 0.17 0.24 0.23 0.29 0.05 |
2 x 10-6 2 x 10-6 4 x 10-6 4 x 10-6 4 x 10-6 6 x 10-6 6 x 10-6 6 x 10-6 6 x 10-6 9 x 10-6 9 x 10-6 |
NR NR NR NR NR NR NR NR NR NR NR |
Illumina
[551,642] |
N |
01/16/09 |
"
|
Normalized brain volume |
753 cases,
883 controls |
NR |
12p11.21 6q21 10p11.23 10q25.2 5q35.1 |
BICD1 FOXO3 SVIL MXI1 KCNIP1 |
rs261902-? rs9480865-? rs1927457-? rs716595-? rs11957313-? |
0.16 0.16 0.31 0.08 0.13 |
4 x 10-6 7 x 10-6 8 x 10-6 8 x 10-6 9 x 10-6 |
NR NR NR NR NR |
Illumina
[551,642] |
N |
12/09/08 |
Aulchenko November 09, 2008 Nat Genet Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis
|
Multiple sclerosis |
45 cases,
195 controls |
2,634 cases,
2,930 controls |
1p36.22 |
KIF1B |
rs10492972-C |
0.27 |
3 x 10-10 |
1.34 [1.23-1.48] |
Affymetrix
[~250,000] |
N |
12/01/08 |
Bilguvar November 09, 2008 Nat Genet Susceptibility loci for intracranial aneurysm in European and Japanese populations
|
Intracranial aneurysm |
1,580 European cases,
6,276 European controls |
495 Japanese cases,
676 Japanese controls |
8q11.23 9q21.3 8q11.23-q12.1 2q33.1 |
SOX17 CDKN2A, CDKN2B SOX17 BOLL, PLCL1 |
rs10958409-A rs1333040-T rs9298506-A rs700651-G |
0.15 0.55 0.81 0.35 |
1 x 10-10 1 x 10-10 2 x 10-9 4 x 10-8 |
1.36 [1.24-1.49] 1.29 [1.19-1.40] 1.35 [1.22-1.49] 1.24 [1.15-1.34] |
Illumina
[289,271] |
N |
12/30/08 |
Drgon November 09, 2008 Mol Med Genome wide association for nicotine dependence and smoking cessation success in NIH research volunteers
|
Nicotine dependence |
220 cases, 260 controls |
2,271 cases, 1,868 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[~600,00] (pooled) |
N |
12/09/08 |
Pankratz November 06, 2008 Nat Genet Genomewide association study for susceptibility genes contributing to familial Parkinson disease
|
Parkinson disease (familial) |
857 cases,
867 controls |
262 cases, 260 controls |
4p16.3 |
GAK, DGKQ |
rs1564282-T |
0.09 |
7 x 10-7 |
1.7 [NR] |
Illumina
[328,189] |
N |
12/09/08 |
Cronin November 05, 2008 Eur J Hum Genet Screening for replication of genome-wide SNP associations in sporadic AL
|
Amyotrophic lateral sclerosis |
958 cases,
932 controls |
309 cases,
404 controls |
7q36.2 |
DPP6 |
rs10260404-C |
0.35 |
3 x 10-6 |
1.37 [1.20-1.56] |
Illumina
[287,522] |
N |
12/01/08 |
Neale November 03, 2008 Am J Med Genet B Neuropsychiatr Genet Genome-wide association scan of attention deficit hyperactivity disorder
|
Attention-deficit/hyperactivity disorder |
909 trios |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Perlegen
[438,784] |
N |
11/25/08 |
Cooper November 02, 2008 Nat Genet Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci
|
Type 1 diabetes |
3,561 cases,
4,646 controls |
6,225 cases,
6,946 controls,
3,064 trios |
6p21.32 1p13.2 12q24.13 12q13.2 15q25.1 16p13.13 6q15 2q33.2 10p15.1 22q13.1 18p11.21 10p15.1 16p13.13 2p23.3 |
HLA PTPN22 C12orf30 ERBB3 CTSH CLEC16A BACH2 CTLA4 PRKCQ C1QTNF6 PTPN2 IL2RA C16orf75, PRM3, TNP2 Intergenic |
rs9272346-G rs6679677-A rs17696736-G rs2292239-A rs3825932-C rs12708716-G rs11755527-G rs3087243-A rs947474-G rs229541-T rs2542151-C rs12251307-T rs416603-T rs2165738-C |
NR NR NR NR 0.32 NR 0.47 NR 0.19 0.43 NR NR 0.44 0.27 |
6 x 10-129 1 x 10-40 6 x 10-18 3 x 10-16 3 x 10-15 7 x 10-13 5 x 10-12 8 x 10-11 4 x 10-9 2 x 10-8 9 x 10-8 2 x 10-6 3 x 10-6 4 x 10-6 |
NR NR NR NR 1.16 [1.10-1.22] NR 1.13 [1.08-1.19] NR 1.1 [1.03-1.18] 1.04 [0.97-1.12] NR NR 1.06 [1.01-1.12] 1.07 [1.01-1.13] |
Affymetrix
[up to 335,565] |
N |
12/09/08 |
McKay November 02, 2008 Nat Genet Lung cancer susceptibility locus at 5p15.33
|
Lung cancer |
2,971 cases,
3,746 controls |
2,899 cases,
5,573 controls |
15q25.1 5p15.33 |
Intergenic TERT, CLPTM1 |
rs1051730-A rs402710-C |
NR NR |
1 x 10-15 4 x 10-6 |
1.35 [1.25-1.45] 1.18 [1.12-1.24] |
Illumina
[315,194] |
N |
11/25/08 |
Wang November 02, 2008 Nat Genet Common 5p15.33 and 6p21.33 variants influence lung cancer risk
|
Lung cancer |
1,952 cases,
1,438 controls |
7,579 cases,
8,236 controls |
15q25.1 6p21.33 5p15.33 |
NR BAT3,MSH5 CLPTM1L |
rs8042374-? rs3117582-C rs401681-G |
NR NR NR |
8 x 10-12 5 x 10-10 8 x 10-9 |
NR 1.24 [1.16-1.33] 1.15 [1.09-1.19] |
Illumina
[223,891] |
N |
12/09/08 |
Bertram October 29, 2008 Am J Hum Genet Genome-wide Association Analysis Reveals Putative Alzheimer's Disease Susceptibility Loci in Addition to APOE
|
Alzheimer's disease |
941 affected individuals,
404 unaffected individuals |
1,767 affected individuals,
838 unaffected individuals |
14q31.2 19q13.33 |
Intergenic CD33 |
rs11159647-? rs3826656-? |
NR NR |
2 x 10-6 6 x 10-6 |
NR NR |
Affymetrix
[484,522] |
N |
12/09/08 |
Anney October 24, 2008 Am J Med Genet B Neuropsychiatr Genet Conduct disorder and ADHD: Evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics study
|
Attention-deficit/hyperactivity disorder and conduct disorder |
938 affected trios |
NR |
13q33.3 21q21.1 4q13.3 12q21.2 15q26.2 1q42.13 2p22.3 11q24.2 14q12 7q31.1 8q22.3 16q21 18q21.31 9p24.1 12q15 16q22.3 16q23.2 2p12 1q23.1 2q33.1 5q31.1 10p14 10p15.2 13q12.2 1p35.2 1q25.3 |
LIG4, ABHD13 Intergenic AMOTL1, CWC15, JMJD2D PAWR SPATA8 LOC729257 Intergenic KIRREL3 Intergenic FLJ31818, GPR85 YWHAZ Intergenic ATP8B1 PTPRD C12orf28 PKD1L3, KIAA0174, DHODH PKD1L2, C16orf46 Intergenic ETV3L, ETV3 FLJ39061, FZD7 C5orf15 A2BP1 PITRM1 GSX1, PDX1 Intergenic RGL1, GLT25D2 |
rs10492664-C rs2826340-T rs10831284-G rs7297018-A rs4533251-T rs701157-C rs6733379-G rs1557488-T rs1951082-T rs10229603-C rs931812-C rs1381102-A rs7236632-A rs10815798-A rs789560-G rs16973500-C rs4889240-T rs7595103-A rs6427356-G rs1521882-A rs1644305-A rs1291846-T rs2764980-A rs9512900-C rs2180233-C rs10797919-G |
0.84 0.17 0.13 0.19 0.15 0.45 0.28 0.18 0.43 0.31 0.74 0.40 0.86 0.48 0.87 0.86 0.45 0.64 0.28 0.82 0.41 0.19 0.51 0.37 0.31 0.59 |
1 x 10-6 2 X 10-6 2 x 10-6 4 x 10-6 4 x 10-6 4 x 10-6 4 x 10-6 5 x 10-6 5 x 10-6 5 x 10-6 5 x 10-6 6 x 10-6 6 x 10-6 6 x 10-6 7 x 10-6 7 x 10-6 7 x 10-6 7 x 10-6 8 x 10-6 8 x 10-6 8 x 10-6 9 x 10-6 9 x 10-6 9 x 10-6 9 x 10-6 9 x 10-6 |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Perlegen
[378,332] |
N |
12/01/08 |
Johansson October 24, 2008 Hum Mol Genet Common variants in the JAZF1 gene associated with height identified by linkage and genome-wide association analysis
|
Height |
3,925
individuals |
38,091 individuals |
7p15.1 |
JAZF1 |
rs1635852-A |
NR |
9 x 10-10 |
.25 [0.17-0.33] cm taller |
Illumina
[NR] |
N |
12/09/08 |
Comabella October 22, 2008 PLoS ONE Identification of a novel risk locus for multiple sclerosis at 13q31.3 by a pooled genome-wide scan of 500,000 single nucleotide polymorphisms
|
Multiple sclerosis |
242 cases,
242 controls |
375 cases,
375 controls |
6p21.32 |
HLA-DRB1 |
rs3129934-T |
NR |
9 x 10-11 |
3.3 [2.3-4.9] |
Affymetrix
[428,867]
(pooled) |
N |
11/25/08 |
Hillmer October 12, 2008 Nat Genet Susceptibility variants for male-pattern baldness on chromosome 20p11
|
Male-pattern baldness |
296 cases,
347 controls |
319 cases,
234 controls |
20p11.22 |
PAX1, BQ013595, BE789145 |
rs2180439-C |
0.43 |
3 x 10-15 |
1.82 [1.45-2.30] |
Illumina
[531,695] |
N |
11/25/08 |
Richards October 12, 2008 Nat Genet Male-pattern baldness susceptibility locus at 20p11
|
Male-pattern baldness |
578 cases,
547 controls |
1,351 cases,
2,485 controls |
20p11.22 Xq12 |
PAX1 AR |
rs1160312-A rs6625163-A |
0.43 NR |
1 x 10-14 (males) 5 x 10-11 |
1.6 [1.42-1.80] (males) 3.3 [2.31-4.71] |
Affymetrix
[370,102] |
N |
11/25/08 |
Stacey October 12, 2008 Nat Genet Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits
|
Basal cell carcinoma (cutaneous) |
930 cases,
33,117 controls |
1,216 cases,
2,844 controls |
1p36.13 1q42.13 |
PADI4, PADI6,RCC2, ARHGEF10L RHOU |
rs7538876-A rs801114-G |
0.35 0.33 |
4 x 10-12 6 x 10-12 |
1.28 [1.19-1.37] 1.28 [1.19-1.37] |
Illumina
[304,083] |
N |
12/01/08 |
Yuan October 10, 2008 Am J Hum Genet Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes
|
Plasma levels of liver enzymes |
7,751 European white individuals |
4,704 European white and Indian Asian individua |
9p34.2 9q34.2 22q13.31 1p36.12 6p22.2 22q11.23 12q24.2 10q24.31 10q21.2 10q24.2q 10q21.3 |
ABO ADAMTS13 PNPLA3, SAMM50 NBPF3, ALPL, RAP1GAP GPLD1 GGT1, C22orf36 HNF1A, C12orf27, C12orf43 JMJD1C REEP3 CPN1, CHUK, ERLIN1 POU2F1 |
rs657152-T rs4962153-A rs2281135-T rs1780324-T rs9467160-A rs4820599-G rs1169313-C rs12355784-A rs10761779-G rs11597390-A rs9803659-Cq |
0.39 NR 0.18 0.43 0.24 0.31 0.38 0.48 0.49 0.36 NR |
2 x 10-30 (ALP) 8 x 10-21 (ALP) 8 x 10-16 (ALT) 7 x 10-15 (ALP) 1 x 10-11 (ALP) 4 x 10-11 (GGT) 2 x 10-10 (GGT) 5 x 10-10 (ALP) 7 x 10-10 (ALP) 2 x 10-8 (ALT) 4 x 10-6 (ALT) |
.05 [0.039-0.055] U/L decrease .06 [0.048-0.072] U/L decrease .06 [0.046-0.074] U/L increase .03 [0.023-0.039] U/L increase .03 [0.024-0.044] U/L increase .01 [0.005-0.009] U/L increase .01 [0.003-0.007] U/L decrease .03 [0.017-0.033] U/L increase .03 [0.017-0.033] U/L increase .04 [0.025-0.053] U/L decrease .03 [0.018-0.042] U/L decrease |
Affymetrix and Illumina
[up to 496,032] |
N |
11/25/08 |
Grant October 07, 2008 Diabetes Follow up analysis of genome-wide association data identifies novel loci for type 1 diabetes
|
Type 1 diabetes |
563 cases,
1,146 controls,
483 case-parents trios |
636 families,
3,303 cases,
4,673 controls |
21q22.3 6q15 1p22.3 9p24.2 15q14 |
UBASH3A BACH2 EDG7 GLIS3 RASGRP1 |
rs9976767-C rs3757247-A rs1983853-? rs10758593-A rs8035957-C |
NR NR NR NR NR |
2 x 10-8 1 x 10-6 2 x 10-6 3 x 10-6 4 x 10-6 |
1.16 [1.10-1.22] 1.13 [1.08-1.19] 1.2 [1.11-1.29] 1.13 [1.07-1.19] 1.14 [1.08-1.21] |
Illumina
[up to 1,000,000] |
N |
05/07/09 |
Lesch October 07, 2008 J Neural Transm Molecular genetics of adult ADHD: converging evidence from genome-wide association and extended pedigree linkage studies
|
Attention-deficit/hyperactivity disorder |
343 cases, 304 controls |
NR |
13q31.3 3p22.1 9q34.13 15q23 17p13.2 9q33.1 2q14.2 1p35.1 15q26.1 16q24.1 15q26.1 10q24.1 5q13.2 9q34.11 6p21.1 10q22.1 10q25.1 20q11.22 12q23.3 6p21.1 7p15.1 22q11.22 16q23.3 2p25.3 2q33.3 5q22.2 |
GPC6 MOBP C9orf98 ITGA11 ITGAE ASTN2 MGC33657 CSMD2 AK094352 ATP2C2 MAN2A2 TLL2 MAP1B DNM1 TFEB UNC5B C10orf79 MMP24 NT5DC3 SUPT3H CREB5 PPM1F CDH13 MYT1L CRYGC REEP5 |
rs7995215-? rs864643-? rs11243897-? rs7164335-? rs220470-? rs10983238-? rs2587695-? rs2281597-? rs7175404-? rs10514604-? rs2677744-? rs10786284-? rs2199161-? rs2502731-? rs2842643-? rs16928529-? rs515910-? rs1555322-? rs4964805-? rs3799977-? rs2237349-? rs412050-? rs11646411-? rs2241685-? rs2242073-? rs469727-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
1 x 10-8 1 x 10-8 6 x 10-8 1 x 10-7 1 x 10-7 1 x 10-7 3 x 10-7 5 x 10-7 6 x 10-7 8 x 10-7 1 x 10-6 2 x 10-6 2 x 10-6 2 x 10-6 3 x 10-6 4 x 10-6 4 x 10-6 4 x 10-6 5 x 10-6 5 x 10-6 5 x 10-6 6 x 10-6 7 x 10-6 8 x 10-6 8 x 10-6 8 x 10-6 |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix [504,219](pooled) |
N |
12/09/08 |
Sonuga-Barke October 07, 2008 Am J Med Genet B Neuropsychiatr Genet Does parental expressed emotion moderate genetic effects in ADHD? An exploration using a genome wide association scan
|
Conduct disorder (interaction) |
909 trios |
NR |
5q21.1 16p13.3 4q23 2p21 10q22.3 3p25.3 8p23.1 15q26.2 18q12.3 1q22 4q22.1 17q22 2p22.2 11q23.2 6p15 |
Intergenic A2BP1 ADH1C Intergenic Intergenic SLC6A1 MFHAS1 Intergenic Intergenic RIT1 PPM1K Intergenic Intergenic ZBTB16 Intergenic |
rs13188771-A rs6500744-C rs1789891-A rs719593-T rs2395528-T rs9990174-T rs332034-A rs4321143-G rs17664267-T rs2282301-A rs893971-T rs8073783-C rs604381-A rs17116334-T rs16880441-G |
0.17 0.53 0.14 0.86 0.23 0.33 0.85 0.28 0.19 0.23 0.60 0.49 0.32 0.16 0.08 |
2 x 10-6 (int, MW) 3 x 10-6 (int, MW) 3 x 10-6 (int, MW) 5 x 10-6 (int, MC) 6 x 10-6 (int, MW) 6 x 10-6 (int, MW) 6 x 10-6 (int, MW) 7 x 10-6 (int, MC) 7 x 10-6 (int, MW) 7 x 10-6 (int, MW) 7 x 10-6 (int, MC) 8 x 10-6 (int, MW) 8 x 10-6 (int, MW) 9 x 10-6 (int, MC) 9 x 10-6 (int, MC) |
4.24 [NR] unit decrease .91 [NR] unit increase 1.47 [NR] unit increase 2.05 [NR] unit decrease 1.46 [NR] unit decrease 2.52 [NR] unit decrease 1.05 [NR] unit increase 1.13 [NR] unit increase 1.39 [NR] unit increase 2.88 [NR] unit increase 1.15 [NR] unit decrease 1.76 [NR] unit decrease 1.26 [NR] unit increase 1.3 [NR] unit increase 1.63 [NR] unit increase |
Perlegen [429,901) |
N |
12/09/08 |
"
|
Attention-deficit/hyperactivity disorder symptoms (interaction) |
909 trios |
NR |
11q21 13q12.3 6p21.2 14q24.3 21q21.1 3q27.2 8p23.2 |
PIWIL4 Intergenic KIF6 Intergenic Intergenic Intergenic Intergenic |
rs2212361-C rs1161463-C rs4714261-T rs2360997-C rs2825388-A rs10049246-G rs4875598-G |
0.26 0.79 0.17 0.86 0.40 0.59 0.34 |
9 x 10-7 (int, MW) 2 x 10-6 (int, MW) 2 x 10-6 (int, MW) 8 x 10-6 (int, MW) 8 x 10-6 (int, MC) 8 x 10-6 (int, MW) 9 x 10-6 (int, MW) |
.97 [NR] unit decrease 1.72 [NR] unit decrease .95 [NR] unit increase 1.3 [NR] unit decrease 1.06 [NR] unit increase .6 [NR] unit increase .94 [NR] unit decrease |
Perlegen
[429,981] |
N |
11/25/08 |
Franke October 05, 2008 Nat Genet Sequence variants in IL10, ARPC2 and multiple other loci contribute to ulcerative colitis susceptibility
|
Ulcerative colitis |
1,167 cases,
777 controls |
1,855 cases,
3,091 controls |
6p21.32 1q32.1 |
HLA-DRA, BTNL2 IL10 |
rs9268877-T rs3024505-T |
0.45 0.15 |
6 x 10-18 1 x 10-12 |
1.45 [1.33-1.58] 1.46 [1.31-1.62] |
Affymetrix
[355,262] |
N |
11/25/08 |
Dehghan October 01, 2008 Lancet Association of three genetic loci with uric acid concentration and risk of gout: a genome-wide association study
|
Serum urate |
11,847 individuals |
14,867 individuals |
4p16.1 4q22.1 6p22.2 |
SLC2A9 ABCG2 SLC17A3 |
rs16890979-T rs2231142-? rs1165205-? |
0.23 0.11 0.47 |
7 x 10-168 (whites) 3 x 10-60 (whites) 4 x 10-29 (whites) |
.34 [0.30-0.38] SD decrease in serum uric acid level .24 [0.20-0.28] SD increase in serum uric acid level .09 [0.07-0.11] SD decrease in serum uric acid level |
Affymetrix and Illumina
[up to 530,683] |
N |
12/09/08 |
Gretarsdottir October 01, 2008 Ann Neurol Risk variants for atrial fibrillation on chromosome 4q25 associate with ischemic stroke
|
Ischemic stroke |
1,661 cases,
10,815 controls |
4,576 cases,
19,343 controls |
4q25 |
NR |
rs2200733-T |
0.11 |
2 x 10-10 |
1.26 [1.17-1.35] |
Illumina
[310,881] |
N |
11/25/08 |
Mushiroda October 01, 2008 J Med Genet A genome-wide association study identifies an association of a common variant in TERT with susceptibility to idiopathic pulmonary fibrosis
|
Idiopathic pulmonary fibrosis |
159 Japanese cases,
934 Japanese controls |
83 Japanese cases,
535 Japanese controls |
5p15.33 |
TERT |
rs2736100-A |
0.41 |
3 x 10-8 |
2.11 [1.61-2.78] |
Illumina
[214,508] |
N |
11/25/08 |
Abraham September 29, 2008 BMC Med Genomics A genome-wide association study for late-onset Alzheimer's disease using DNA pooling
|
Alzheimer's disease |
1,082 cases,
1,239 controls |
1,400 additional controls |
19q13.32 22q13.33 |
PVRL2, TOMM40, APOE CPT1B |
rs6859-A rs727153-C |
NR 0.17 |
6 x 10-14 3 x 10-6 |
NR 1.63 [1.37-1.95] |
Illumina
[561,494]
(pooled) |
N |
11/25/08 |
Miyagawa September 28, 2008 Nat Genet Variant between CPT1B and CHKB associated with susceptibility to narcolepsy
|
Narcolepsy |
222 Japanese cases,
389 Japanese controls |
748 cases,
994 controls |
22q13.33 |
CPT1B |
rs5770917-C |
0.17 |
6 x 10-8 |
1.63 [1.37-1.95] |
Affymetrix
[249,133] |
N |
11/25/08 |
Mick September 26, 2008 Am J Med Genet B Neuropsychiatr Genet Genome-wide association study of response to methylphenidate in 187 children with attention-deficit/hyperactivity disorder
|
Attention-deficit/hyperactivity disorder |
187 children |
NR |
22q13.31 5p15.31 |
Intergenic Intergenic |
rs9627183-C rs11134178-T |
0.03 0.05 |
3 x 10-6 3 x 10-6 |
NR NR |
Affymetrix
[319,722] |
N |
12/09/08 |
Burkhardt September 18, 2008 Arterioscler Thromb Vasc Biol Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13
|
LDL cholesterol |
2,346 Micronesian individuals |
1,464 European white cases,
1,467 European white controls |
5q13.3 19q13.32 |
HMGCR APOE, APOC1, APOC4, APOC2 |
rs7703051-A rs4420638-? |
0.41 NR |
1 x 10-8 2 x 10-7 |
18 [NR] % SD increase NR |
Affymetrix
[~500,000] |
N |
11/25/08 |
Liu September 17, 2008 J Natl Cancer Inst Familial Aggregation of Common Sequence Variants on 15q24-25.1 in Lung Cancer
|
Lung cancer |
194 cases,
219 controls |
3,878 cases,
4,831 controls |
15q25.1 |
LOC123688, PSMA4, CHRNA3, CHRNA5, CHRNB4 |
rs8034191-G |
NR |
1 x 10-8 |
1.38 [1.17-1.64] |
Affymetrix
[up to 722,376] |
N |
11/25/08 |
Kiemeney September 14, 2008 Nat Genet Sequence variant on 8q24 confers susceptibility to urinary bladder cancer
|
Urinary bladder cancer |
1,803 cases,
34,336 controls |
2,165 cases,
3,800 controls |
8q24.21 3q28 |
MYC, BC042052 TP63 |
rs9642880-T rs710521-A |
0.45 0.73 |
9 x 10-12 1 x 10-7 |
1.22 [1.15-1.29] 1.19 [1.12-1.27] |
Illumina
[302,140] |
N |
11/25/08 |
Raychaudhuri September 14, 2008 Nat Genet Common variants at CD40 and other loci confer risk of rheumatoid arthritis
|
Rheumatoid arthritis |
3,393 cases,
12,460 controls |
3,929 cases,
5,807 controls |
6p21.32 1p13.2 6q23.3 20q13.12 9p13.3 12q13.3 1p36.32 10p15.1 7q21.2 |
HLA-DRB1 PTPN22 OLIG3, TNFIP3 CD40 CCL21 KIF5A-PIP4K2C MMEL1-TNFRSF14 PRKCQ CDK6 |
rs6457620-? rs6679677-? rs6920220-? rs4810485-G rs2812378-G rs1678542-C rs3890745-T rs4750316-G rs42041-G |
0.50 0.10 0.22 0.25 0.34 0.37 0.33 0.20 0.24 |
4x10-186 6 x 10-42 2 x 10-9 8 x 10-9 3 x 10-8 9 x 10-8 1 x 10-7 4 x 10-6 4 x 10-6 |
2.55 [2.40-2.71] 1.79 [1.65-1.94] 1.24 [1.16-1.32] 1.15 [NR] 1.12 [NR] 1.12 [NR] 1.12 [NR] 1.14 [NR] 1.11 [NR] |
Illumina
[818,728]
Affymetrix
[~340,000]
(imputed) |
N |
11/25/08 |
Huyghe September 12, 2008 Am J Hum Genet Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait
|
Hearing impairment |
1,081 individuals |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[169,154] |
N |
11/25/08 |
Liu September 08, 2008 PLoS ONE Identification of PLCL1 gene for hip bone size variation in females in a genome-wide association study
|
Hip bone size |
501 women,
499 men |
1,216 women |
2q33.1 |
PLCL1 |
rs7595412-A |
0.89 |
2 x 10-6 |
5 [NR] cm2 increase in hip bone size on women |
Affymetrix
[306,823] |
N |
11/25/08 |
Hazra September 07, 2008 Nat Genet Common variants of FUT2 are associated with plasma vitamin B12 levels
|
Plasma level of vitamin B12 |
1,658 women |
1,059 women |
19q13.3 |
FUT2 |
rs492602-G |
0.49 |
5 x 10-17 |
.09 [0.07-0.11] pg/ml decrease |
Illumina
[528,134] |
N |
11/25/08 |
McArdle September 01, 2008 Arthritis Rheum Association of a common nonsynonymous variant in GLUT9 with serum uric acid levels in old order amish
|
Serum uric acid |
408 women,
460 men |
NR |
4p16.1 13q33.1 2q31.1 13q14.11 3p24.3 20p12.3 5q31.3 |
GLUT9, WDR1 NR NR NR NR NR NR |
rs16890979-? rs4771450-? rs4668338-? rs17065323-? rs6442522-? rs6085920-? rs3776331-? |
NR NR NR NR NR NR NR |
1 x 10-11 2 x 10-6 3 x 10-6 4 x 10-6 5 x 10-6 6 x 10-6 8 x 10-6 |
.44 [0.32-0.56] mg/dl decrease in uric serum levels .23 [NR] mg/dl decrease in uric acid levels 4.29 [NR] mg/dl decrease in uric acid levels 4.29 [NR] mg/dl decrease in uric acid levels .05 [NR] mg/dl increase in uric acid levels .4 [NR] mg/dl decrease in uric acid levels .3 [NR] mg/dl increase in uric acid levels |
Affymetrix
[361,034] |
N |
11/25/08 |
van den Oord September 01, 2008 Arch Gen Psychiatry Genomewide Association Analysis Followed by a Replication Study Implicates a Novel Candidate Gene for Neuroticism
|
Neuroticism |
1,227 individuals |
1,880 individuals |
14q21.3 8q24.23 7p21.3 |
MAMDC1 AK127771 NXPH1 |
rs12883384-? rs2705293-? rs2349775-? |
NR NR NR |
7 x 10-7 6 x 10-6 7 x 10-6 |
NR NR NR |
Affymetrix
[420,287] |
N |
11/25/08 |
Di Bernardo August 31, 2008 Nat Genet A genome-wide association study identifies six susceptibility loci for chronic lymphocytic leukemia
|
Chronic lymphocytic leukemia |
505 cases, 1,438 controls |
1,024 cases,
1,677 controls |
6p25.3 11q24.1 15q23 2q13 2q37.1 19q13.32 |
IRF4 GRAMD1B Intergenic ACOXL,BCL2L11 SP140, SP110 PRKD2,STRN4 |
rs872071-G rs735665-A rs7176508-A rs17483466-G rs13397985-G rs11083846-A |
0.54 0.21 0.37 0.20 0.19 0.22 |
2 x 10-20 4 x 10-12 5 x 10-12 2 x 10-10 6 x 10-10 4 x 10-9 |
1.54 [1.41- 1.69] 1.45 [1.31-1.61] 1.37 [1.26-1.50] 1.39 [1.25-1.53] 1.41 [1.26-1.57] 1.35 [1.22-1.49] |
Illumina
[345,665] |
N |
11/25/08 |
Kugathasan August 31, 2008 Nat Genet Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease
|
Inflammatory bowel disease |
1,011 cases,
4,250 controls |
1,922 cases,
14,124 controls |
20q13.33 21q22.2 1p31.3 16q12.1 6p21.32 9q32 |
TNFRSF6B PSMG1 IL23R NOD2 HLA-DQA1 TNFSF15 |
rs2315008-G rs2836878-? rs11209026-? rs5743289-T rs477515-? rs6478109-? |
0.69 0.72 0.94 0.17 0.69 0.69 |
9 x 10-15 4 x 10-12 7 x 10-11 4 x 10-10 1 x 10-8 3 x 10-8 |
1.36 [1.05-1.76] 1.41 [1.08-1.84] 2.56 [1.92-3.45] 1.46 [1.29-1.64] 1.38 [1.23-1.54] 1.36 [1.22-1.52] |
Illumina
[NR] |
N |
11/25/08 |
Galvan August 26, 2008 Int J Cancer A polygenic model with common variants may predict lung adenocarcinoma risk in humans
|
Lung adenocarcinoma |
482 cases,
522 controls |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Illumina
[~318,000]
(pooled) |
N |
11/25/08 |
Weidinger August 22, 2008 PLoS Genet Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus
|
Serum IgE levels |
1,530 individuals |
9,769 individuals |
1q23.2 5q31.1 |
FCER1A RAD50 |
rs2251746-C rs2040704-? |
0.26 0.23 |
2 x 10-20 4 x 10-8 |
19.2 [NR] % decrease 13.9 [NR] % increase |
Affymetrix
[353,569] |
N |
11/25/08 |
Ferreira August 17, 2008 Nat Genet Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
|
Bipolar disorder |
4,387 cases,
6,209 controls |
NR |
10q21.2 12q13.12 15q14 2q11.2 9q33.3 11q14.1 15q14 3p22.3 6q25.2 9p13.3 14q11.2 14q13.1 3p24.3 3p24.3 11q24.2 15q25.1 1p21.2 9q31.3 18p11.32 3p26.2 10q22.3 |
ANK3 CACNA1C C15orf53, RASGRP1 Intergenic NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
rs10994336-T rs1006737-A rs12899449-? rs2314398-? rs4130590-? rs12290811-A rs16966460-G rs4380451-? rs17082664-G rs216345-T rs12436436-C rs8015959-T rs3821396-A rs11720452-? rs544368-T rs2278702-? rs1948368-? rs7042161-? rs7226677-G rs1601875-? rs703965-? |
0.05 0.32 0.72 0.69 0.56 0.15 0.10 0.73 0.13 0.37 0.08 0.02 0.11 0.58 0.12 0.83 0.51 0.65 0.12 0.50 0.54 |
9 x 10-9 7 x 10-8 4 x 10-7 3 x 10-6 3 x 10-6 4 x 10-6 4 x 10-6 4 x 10-6 4 x 10-6 4 x 10-6 5 x 10-6 5 x 10-6 5 x 10-6 5 x 10-6 6 x 10-6 6 x 10-6 6 x 10-6 6 x 10-6 7 x 10-6 7 x 10-6 8 x 10-6 |
1.45 [NR] 1.18 [NR] 1.2 [NR] 1.17 [NR] 1.16 [NR] 1.2 [NR] 1.26 [NR] 1.18 [NR] 1.22 [NR] 1.15 [NR] 1.3 [NR] 1.59 [NR] 1.23 [NR] 1.15 [NR] 1.22 [NR] 1.21 [NR] 1.15 [NR] 1.15 [NR] 1.24 [NR] 1.14 [NR] 1.15 [NR] |
Affymetrix
[1,769,948]
imputed |
N |
04/10/09 |
Unoki August 17, 2008 Nat Genet SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations
|
Type 2 diabetes |
194 Japanese cases, 1,558 Japanese controls |
4,924 cases, 2,618 controls (Japanese), 1433 cases, 1,735 controls (Singaporean), 3,891 cases, 4,888 controls (Danish) |
11p15.4 6p22.3 3q27.2 |
KCNQ1 CDKAL1 IGF2BP2 |
rs2237897-C rs4712524-G rs6769511-C |
0.61 0.42 0.32 |
1 x 10-16 3 x 10-10 1 x 10-9 |
1.33 [1.24-1.41] 1.22 [1.15-1.31] 1.23 [1.15-1.31] |
Affymetrix [207,097] |
N |
04/03/09 |
Yasuda August 17, 2008 Nat Genet Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus
|
Type 2 diabetes |
187 Japanese cases, 1,504 Japanese controls |
6,552 Asian cases, 6,621 Asian controls, 2,830 cases, 3,740 controls (Swedish) |
11p15.5 |
KCNQ1 |
rs2237892-C |
0.61 |
2 x 10-42 |
1.4 [1.34-1.47] |
Invader [82,343] |
N |
11/25/08 |
Shlien August 12, 2008 Proc Natl Acad Sci USA Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome
|
TP53 carriage |
53 carriers,
70 controls |
770 individuals |
Pending |
Pending |
Pending |
Pending |
Pending |
Pending |
Affymetrix
[3,884 CNVs] |
Y |
11/25/08 |
Hofmann August 10, 2008 Nat Genet Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis
|
Sarcoidosis |
499 cases,
490 controls |
1,649 cases,
1,832 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[375,771] |
N |
11/25/08 |
Graham August 01, 2008 Nat Genet Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus
|
Systemic lupus erythematosus |
431 cases,
2,155 controls |
740 trios |
6q23.3 2q32.3 8p23.1 16p11.2 10q11.22 17p12 4q28.3 2p16.3 |
TNFAIP3 STAT4 BLK ITGAM c10orf64 Intergenic Intergenic Intergenic |
rs5029939-? rs3821236-? rs2618476-? rs11150610-? rs11101442-? rs12949531-? rs2313132-? rs17039212-? |
0.03 0.19 0.26 0.42 0.32 0.22 0.12 0.10 |
3 x 10-12 8 x 10-11 2 x 10-8 2 x 10-6 3 x 10-6 8 x 10-6 8 x 10-6 9 x 10-6 |
2.28 [NR] 1.49 [NR] 1.29 [NR] NR NR NR NR NR |
Affymetrix
[313,238] |
N |
11/25/08 |
Julia August 01, 2008 Arthritis Rheum Genome-wide association study of rheumatoid arthritis in the Spanish population: KLF12 as a risk locus for rheumatoid arthritis susceptibility
|
Rheumatoid arthritis |
400 cases,
400 controls |
410 cases,
394 controls |
6p21.32 18q23 |
HLA-DQA1, HLA-DQA2 SALL3 |
rs6457617-? rs2002842-A |
NR 0.49 |
1 x 10-9 6 x 10-6 |
NR 1.61 [NR] |
Illumina
[299,918] |
N |
11/25/08 |
O'Donovan July 30, 2008 Nat Genet Identification of loci associated with schizophrenia by genome-wide association and follow-up
|
Schizophrenia |
479 cases,
2,937 controls |
6,666 cases,
9,897 controls |
2q32.1 11p14.1 16p13.12 |
ZNF804A Intergenic Intergenic |
rs1344706-T rs1602565-C rs7192086-T |
0.59 0.11 0.24 |
2 x 10-7 3 x 10-6 6 x 10-6 |
1.12 [NR] 1.16 [NR] 1.12 [NR] |
Affymetrix
[362,532] |
N |
11/25/08 |
Schormair July 27, 2008 Nat Genet PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
|
Restless legs syndrome |
628 cases,
1,644 controls |
1,835 cases,
3,111 controls |
9p23 9p24.1 |
PTPRD PTPRD |
rs4626664-A rs1975197-T |
0.12 0.16 |
6 x 10-10 6 x 10-9 |
1.44 [1.31-1.59] 1.31 [1.20-1.44] |
Affymetrix
[208,733] |
N |
11/25/08 |
The SEARCH Collaborative Group July 23, 2008 N Engl J Med SLCO1B1 Variants and Statin-Induced Myopathy--A Genomewide Study
|
Myopathy |
85 cases,
90 controls |
19,856 individuals |
12p12.1 |
SLCO1B1 |
rs4149056-C |
0.13 |
2 x 10-9 |
4.5 [2.60-7.70] |
Illumina
[316,184] |
N |
11/25/08 |
Franke July 21, 2008 Gastroenterology Genome-wide association study anaylsis in sarcoidosis and Crohn disease unravels a common susceptibility locus on 10p12.2
|
Crohn's disease and Sarcoidosis (combined) |
382 CD cases,
398 SA cases,
394 controls |
660 CD cases,
657 SA cases,
1,091 controls |
10p12.2 |
C10orf67 |
rs1398024-A |
0.25 |
4 x 10-6 |
1.23 [1.04-1.45] |
Affymetrix
[83,360] |
N |
11/25/08 |
Liu July 10, 2008 Mol Med Genome-wide association scan identifies candidate polymorphisms associated with differential response to anti-TNF treatment in Rheumatoid Arthritis
|
Treatment response to TNF antagonists |
89 cases |
NR |
20q12 6q26 9p21.2 7q21.3 20p11.21 2q24.3 4p15.1 1p22.3 |
MAFB QKI IFNK PON1 CST5 LASS6 CENTD1 LMO4 |
rs6028945-T rs10945919-G rs7046653-A rs854555-A rs6138150-T rs13393173-A rs437943-G rs983332-A |
0.12 0.32 0.26 0.34 0.84 0.12 0.33 0.21 |
2 x 10-7 3 x 10-7 5 x 10-7 2 x 10-6 3 x 10-6 4 x 10-6 4 x 10-6 5 x 10-6 |
NR NR NR NR NR NR NR NR |
Illumina
[283,348] |
N |
11/25/08 |
Pare July 04, 2008 PLoS Genet Novel Association of ABO Histo-Blood Group Antigen with Soluble ICAM-1: Results of a Genome-Wide Association Study of 6,578 Women
|
Soluble ICAM-1 |
4,570 women |
2,008 women |
19p13.2 9q34.2 19p13.2 19p13.2 |
ICAM1 ABO ICAM1 ICAM1 |
rs1799969-G rs507666-G rs5498-A rs281437-? |
0.12 0.20 0.43 0.30 |
4 x 10-47 5 x 10-29 5 x 10-25 3 x 10-10 |
28.19 [NR] umol/L decrease 17.73 [NR] umol/L decrease 13.22 [NR] umol/L increase 10.1 [NR] umol/L increase |
Illumina
[336,108] |
N |
11/25/08 |
Bae July 02, 2008 Biochem Biophys Res Commun Identification of SNP markers for common CNV regions and association analysis of risk of subarachnoid aneurysmal hemorrhage in Japanese population
|
Subarachnoid aneurysmal hemorrhage |
203 cases, 294 controls |
NR |
Pending |
Pending |
Pending |
Pending |
Pending |
Pending |
Illumina
[317,503] |
Y |
11/25/08 |
Sarasquete July 01, 2008 Blood Bisphosphonate-related osteonecrosis of the jaw is associated with polymorphisms of the cytochrome P450 CYP2C8 in multiple myeloma: a genome-wide single nucleotide polymorphism analysis
|
Osteonecrosis of the jaw |
21 cases,
64 controls |
NR |
10q23.33 |
CYP2C8 |
rs1934951-T |
0.12 |
1 x 10-6 |
12.75 [3.7-43.5] |
Affymetrix
[339,972] |
N |
11/25/08 |
Turner June 30, 2008 Hypertension Genomic association analysis suggests chromosome 12 locus influencing antihypertensive response to thiazide diuretic
|
Response to diuretic therapy |
194 blacks, 195 whites |
NR |
12q15 |
LYZ, YEATS4, FRS2 |
3-SNP haplotype |
NR |
6 x 10-6 |
NR |
Affymetrix
[up to 102,334] |
N |
11/25/08 |
Barrett June 29, 2008 Nat Genet Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
|
Crohn's disease |
3,230 cases
4,829 controls |
1,339 trios, 2,325 cases, 1,809 controls |
1p31.3 2q37.1 5p13.1 16q12.1 10q21.2 5q31.1 18p11.21 10q24.2 5q33.1 13q14.11 5q33.3 3p21.31 6q27 17q21.2 1q32.1 6q21 12q12 9q32 6p22.3 11q13.5 1q23.2 21q22.3 10p11.21 1q24.3 9p24.1 17q12 7p12.2 8q24.13 21q21.1 1p13.2 |
IL23R ATG16L1 PTGER4 NOD2 ZNF365 Intergenic PTPN2 NKX2-3 IRGM Unknown IL12B MST1 CCR6 STAT3 Intergenic Unknown LRRK2, MUC19 TNFSF15 CDKAL1 C11orf30 ITLN1 ICOSLG Intergenic Intergenic JAK2 ORMDL3 Intergenic Intergenic Intergenic PTPN22 |
rs11465804-T rs3828309-G rs4613763-C rs2066847-C rs10995271-C rs2188962-T rs2542151-G rs11190140-T rs11747270-G rs3764147-G rs10045431-C rs3197999-A rs2301436-T rs744166-A rs11584383-T rs7746082-C rs11175593-T rs4263839-G rs6908425-C rs7927894-T rs2274910-C rs762421-G rs17582416-G rs9286879-G rs10758669-C rs2872507-A rs1456893-A rs1551398-A rs1736135-T rs2476601-G |
0.93 0.53 0.13 0.02 0.39 0.43 0.15 0.48 0.09 0.22 0.71 0.27 0.46 0.57 0.70 0.29 0.02 0.68 0.78 0.39 0.68 0.39 0.35 0.24 0.35 0.47 0.68 0.62 0.57 0.90 |
7 x 10-63 2 x 10-32 7 x 10-27 3 x 10-24 4 x 10-20 2 x 10-18 5 x 10-17 3 x 10-16 3 x 10-16 2 x 10-13 4 x 10-13 1 x 10-12 1 x 10-12 7 x 10-12 1 x 10-11 2 x 10-10 3 x 10-10 3 x 10-10 9 x 10-10 1 x 10-9 1 x 10-9 1 x 10-9 2 x 10-9 2 x 10-9 3 x 10-9 5x 10-9 5 x 10-9 5 x 10-9 7 x 10-9 1 x 10-8 |
2.5 [NR] 1.25 [NR] 1.32 [NR] 3.99 [NR] 1.25 [NR] 1.25 [NR] 1.35 [NR] 1.2 [NR] 1.33 [NR] 1.25 [NR] 1.11 [NR] 1.2 [NR] 1.21 [NR] 1.18 [NR] 1.18 [NR] 1.17 [NR] 1.54 [NR] 1.22 [NR] 1.21 [NR] 1.16 [NR] 1.14 [NR] 1.13 [NR] 1.16 [NR] 1.19 [NR] 1.12 [NR] 1.12 [NR] 1.2 [NR] 1.08 [NR] 1.18 [NR] 1.31 [NR] |
Affymetrix and Illumina
[635,547]
(imputed) |
N |
11/25/08 |
Behrens June 24, 2008 Arthritis Rheum Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritis
|
Juvenile idiopathic arthritis |
130 cases
1,952 controls |
NR |
6p21.32 |
HLA-DRB1 |
rs2395148-? |
NR |
2 x 10-10 |
5.37 [3.02-9.56] |
Illumina
[524,684] |
N |
11/25/08 |
Bouatia-Naji June 19, 2008 Science A Polymorphism Within the G6PC2 Gene is Associated with Fasting Plasma Glucose Levels
|
Fasting plasma glucose |
654 normoglycemic individuals |
9,353 individuals |
2q24.3 |
G6PC2 |
rs560887-A |
0.30 |
4 x 10-23 |
.06 [0.05-0.08] mmol/l decrease |
Illumina
[392,935] |
N |
11/25/08 |
Cooper June 05, 2008 Blood A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose
|
Warfarin maintenance dose |
181 individuals |
374 individuals |
16p11.2 10q23.33 12p13.33 |
VKORC1 CYP2C9 CACNA1C |
rs10871454-? rs4086116-? rs216013-? |
NR NR NR |
5 x 10-34 6x 10-12 9 x 10-7 |
NR NR NR |
Illumina
[538,629] |
N |
11/25/08 |
Chen June 04, 2008 J Clin Invest Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels
|
Fasting plasma glucose |
5,088 nondiabetic individuals |
18,436 nondiabetic individuals |
2q24.3 |
G6PC2,ABCB11 |
rs563694-C |
0.34 |
4 x 10-7 |
NR |
Illumina
[315,635] |
N |
11/25/08 |
Uhl June 04, 2008 Arch Gen Psychiatry Molecular genetics of successful smoking cessation: convergent genome-wide association study results
|
Smoking cessation |
241 cases,
309 controls |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[~500,000]
(pooled) |
N |
11/25/08 |
Lavedan June 03, 2008 Mol Psychiatry Association of the NPAS3gene and five other loci with response of the antipsychotic iloperidone identified in a whole genome association study
|
Response to iloperidone treatment (PANSS-T score) |
106 individuals |
104 individuals |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[334,563] |
N |
11/25/08 |
Volpi June 03, 2008 Mol Psychiatry Whole genome association study identifies polymorphisms associated with QT prolongation during iloperidone treatment of schizophrenia
|
Response to iloperidone treatment (QT prolongation) |
183 individuals |
NR |
10q23.1 14q12 15q26.1 18q12.2 2q31.3 4q32.3 |
NRG3 NUBPL SLCO3A1 BRUNOL4 CERKL PALLD |
rs4933824-T rs7142881-A rs3924426-T rs4799915-T rs993648-T rs17054392-C |
NR NR NR NR NR NR |
2 x 10-6 2 x 10-6 2 x 10-6 3 x 10-6 3 x 10-6 3 x 10-6 |
NR NR NR NR NR NR |
Affymetrix
[339,272] |
N |
11/25/08 |
Brown May 18, 2008 Nat Genet Common sequence variants on 20q11.22 confer melanoma susceptibility
|
Melanoma |
864 cases,
864 controls |
1,230 cases,
1,251 controls |
20q11.22 |
CDC91L1 |
rs910873-T |
0.09 |
1 x 10-15 |
1.75 [1.53-2.01] |
Illumina
[535,150]
(pooled) |
N |
11/25/08 |
Sulem May 18, 2008 Nat Genet Two newly identified genetic determinants of pigmentation in Europeans
|
Blond vs. brown hair |
5,130 individuals |
3,330 individuals |
11q13.2 |
TPCN2 |
rs35264875-T |
0.22 |
4 x 10-30 |
2.49 [1.96-3.15] |
Illumina
[316,515] |
N |
11/25/08 |
"
|
Blue vs. green eyes |
5,130 individuals |
3,330 individuals |
9p23 |
TYRP1 |
rs1408799-C |
0.75 |
6 x 10-17 |
1.4 [1.25-1.57] |
Illumina
[316,515] |
N |
11/25/08 |
"
|
Burning and freckling |
5,130 individuals |
3,330 individuals |
20q11.22 |
ASIP |
rs1015362-G + rs4911414-T |
0.08 |
6 x 10-37 |
2.56 [2.06-3.18] |
Illumina
[316,515] |
N |
11/25/08 |
"
|
Freckles |
5,130 individuals |
3,330 individuals |
20q11.22 |
ASIP |
rs1015362-G + rs4911414-T |
0.08 |
8 x 10-29 |
1.95 [1.65-2.32] |
Illumina
[316,515] |
N |
11/25/08 |
"
|
Red vs. non-red hair |
5,130 individuals |
3,330 individuals |
20q11.22 |
ASIP |
rs1015362-G + rs4911414-T |
0.08 |
3 x 10-9 |
1.76 [1.34-2.31] |
Illumina
[316,515] |
N |
11/25/08 |
"
|
Skin sensitivity to sun |
5,130 individuals |
3,330 individuals |
20q11.22 |
ASIP |
rs1015362-G + rs4911414-T |
0.08 |
2 x 10-24 |
1.76 [1.49-2.08] |
Illumina
[316,515] |
N |
11/25/08 |
Han May 16, 2008 PLoS Genet A Genome-Wide Association Study Identifies Novel Alleles Associated with Hair Color and Skin Pigmentation
|
Black vs. blond hair color |
2,287 women |
up to 8,465 individuals |
6p25.3 15q13.1 15q13.1 14q32.12 5p13.3 15q13.1 6p25.3 |
IRF4 HERC2 OCA2 SLC24A4 MATP Intergenic EXOC2 |
rs12203592-T rs12913832-A rs11855019-G rs12896399-G rs28777-C rs8033165-T rs6918152-A |
NR NR NR NR NR NR NR |
7 x 10-127 4 x 10-103 2 x 10-24 8 x 10-21 1 x 10-17 5 x 10-11 6 x 10-8 |
.35 [0.33-0.37] decrease in hair color score .44 [0.40-0.48] decrease in hair color score .28 [0.22-0.34] decrease in hair color score .18 [0.14-0.22] increase in hair color score .46 [0.36-0.56] decrease in hair color score .12 [0.08-0.16] increase in hair color score .11 [0.07-0.15] increase in hair color score |
Illumina
[528,173] |
N |
11/25/08 |
"
|
Black vs. red hair color |
2,287 women |
up to 8,465 individuals |
15q13.1 6p25.3 16q24.3 15q13.1 5p13.3 15q13.1 6p25.3 |
HERC2 IRF4 MC1R OCA2 MATP Intergenic EXOC2 |
rs12913832-A rs12203592-T rs258322-T rs11855019-G rs28777-C rs8033165-T rs6918152-A |
NR NR NR NR NR NR NR |
1 x 10-77 9 x 10-28 2 x 10-23 6 x 10-20 9 x 10-14 2 x 10-12 5 x 10-7 |
.44 [0.40-0.48] decrease in hair color score .31 [0.25-0.36] decrease in hair color score .36 [0.28-0.44] increase in hair color score .29 [0.23-0.35] decrease in hair color score .46 [0.34-0.58] decrease in hair color score .15 [0.11-0.19] increase in hair color score .11 [0.07-0.15] increase in hair color score |
Illumina
[528,173] |
N |
11/25/08 |
Maris May 09, 2008 N Engl J Med Chromosome 6p22 Locus Associated with Clinically Aggressive Neuroblastoma
|
Neuroblastoma |
1,032 cases,
2,043 controls |
720 cases,
2,128 controls |
6p22.3 |
FLJ22536, FLJ44180 |
rs6939340-G |
0.50 |
9 x 10-15 |
1.37 [1.27-1.49] |
Illumina
[464,934] |
N |
11/25/08 |
Melzer May 09, 2008 PLoS Genet A Genome-Wide Association Study Identifies Protein Quantitative Trait Loci (pQTLs)
|
Protein quantitative trait loci |
1,200 individuals |
NR |
1q21.3 9q34.2 17q12 11q23.1 12q12 6q26 11q23.3 17p12 12q24.11 13q12.11 18q11.2 1q21.1 22q11.23 17p13.1 6q11.1 19p13.2 17q25.3 15q15.2 16q23.2 2p12 12p12.3 1q21.1 8q21.11 9q31.2 11p15.5 11q24.2 12q24.33 2p13.3 5q35.1 6q23.2 6q24.3 7p21.3 6q22.31 10p11.21 15q21.1 18q12.1 1p21.1 9q22.2 13q12.2 2q23.1 3p12.3 6p21.33 10p12.33 1q23.2 2p15 8q24.21 2p11.2 2q13 11q14.1 |
IL6R ABO CCL4L2 IL18 PDZRN4,CNTN1 LPA PAFAH1B2 HS3ST3B1 ATP2A2 FGF3 OSBPL1A CHD1L GGT1 SHBG KHDRBS2 ANGPTL6 C17orf62 CDAN1 BCM01 CTNNA2 EPS8 CHD1L GDAP1,PI15 TMEM38B KCNQ1 KIRREL3 GPR133 DYSF DOCK2 EYA4 SASH1 NXPH1 GJA1 FZD8,ANKRD30A DUT DSC3 COL11A GADD45G,DIRAS2 SACS EPC2 ROBO1 HLA-C CACNB2 CRP LOC51057 FAM49B SH2D6 IL1RN DLG2 |
rs4129267-C rs505922-? rs4796217-T rs2250417-A rs1880887-? rs7770628-T rs7112513-? rs3848445-? rs11065611-? rs17369571-? rs9635963-? rs4950322-? rs5751901-T rs6761-? rs6455128-? rs8109578-? rs9303029-? rs16957063-? rs4889294-? rs11695685-? rs17415853-? rs4950322-? rs6472866-? rs4742971-? rs2237878-? rs1939992-? rs10466868-? rs2900976-? rs169082-? rs9402515-? rs6930337-? rs1285407-? rs4541776-? rs1779876-? rs11637235-? rs2729409-? rs10874639-? rs2081670-? rs4770433-? rs10191411-? rs9834373-? rs9461688-? rs7076247-? rs12093699-? rs11683229-? rs10092658-? rs7577642-? rs6761276-? rs3885683-? |
0.37 0.34 0.34 0.44 0.03 0.49 0.13 0.05 0.06 0.16 0.18 0.21 0.39 0.31 0.19 0.08 0.08 0.01 0.47 0.30 0.02 0.21 0.42 0.11 0.07 0.26 0.12 0.30 0.48 0.09 0.06 0.35 0.33 0.10 0.28 0.26 0.12 0.15 0.40 0.32 0.17 0.31 0.37 0.29 0.15 0.07 0.27 0.37 0.11 |
2 x 10-57 (IL-6sR) 7 x 10-40 (TNFA) 4 x 10-21 (MIPb) 7 x 10-13 (IL18) 1 x 10-10 (Alkaline phosphatase) 4 x 10-10 (LPA) 6 x 10-9 (Soluble transferrin receptor) 8 x 10-9 (Ft3) 1 x 10-7 (Alpha-1 globulin) 1 x 10-7 (IL1RA) 2 x 10-7 (SHBG) 2 x 10-7 (Resistin) 2 x 10-7 (GGT1) 3 x 10-7 (SHBG) 3 x 10-7 (GOT (AST)) 4 x 10-7 (TSH) 4 x 10-7 (Free IGF1) 5 x 10-7 (Ft4) 5 x 10-7 (IL1B) 5 x 10-7 (IL10) 7 x 10-7 (Ferritin) 7x 10-7 (Hgb) 8 x 10-7 (myoglobin) 8 x 10-7 (GPT (ALT)) 1 x 10-6 (Lactic hydrogenase) 1 x 10-6 (Total IGF-1) 1 x 10-6 (Erythropoeitin) 1 x 10-6 (Albumin) 1 x 10-6 (Leptin) 1 x 10-6 (Alpha-2 macroglobulin) 1 x 10-6 (insulin) 1 x 10-6 (TGF-b1) 2 x 10-6 (GGT) 3 x 10-6 (Lipoprotein A) 3 x 10-6 (Adiponectin) 3 x 10-6 (Parathyroid hormone) 3 x 10-6 (Fibrinogen) 3 x 10-6 (MIP-1b) 4 x 10-6 (IL12) 4 x 10-6 (IL8) 4 x 10-6 (GP130) 4 x 10-6 (IL18) 6 x 10-6 (CRP) 6 x 10-6 (CRP) 6 x 10-6 (IL6) 6 x 10-6 (Aldolase) 7 x 10-6 (sIL-6R) 7 x 10-6 (IL1RA) 8 x 10-6 (MCP1) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Illumina
[496,032] |
N |
11/25/08 |
Kibriya May 08, 2008 Breast Cancer Res Treat A pilot genome-wide association study of early-onset breast cancer
|
Breast cancer |
30 cases,
30 controls |
NR |
2q37.1 |
GLG1 |
3-SNP haplotype 1 |
0.34 |
4 x 10-7 |
NR |
Affymetrix
[200,220] |
N |
11/25/08 |
Valdes May 08, 2008 Am J Hum Genet Genome-wide Association Scan Identifies a Prostaglandin-Endoperoxide Synthase 2 Variant Involved in Risk of Knee Osteoarthritis
|
Knee osteoarthritis |
357 cases,
285 controls |
1,177 cases,
2,372 controls |
1q31.1 2q33.3 |
PTGS2, PLA2G4A PARD3B |
rs4140564-? rs1207421-? |
0.05 0.09 |
3 x 10-6 6 x 10-6 |
1.59 [1.31-1.94] 1.46 [1.24-1.73] |
Illumina
[413,461] |
N |
11/25/08 |
Chambers May 04, 2008 Nat Genet Common genetic variation near MC4R is associated with waist circumference and insulin resistance
|
Waist circumference and related phenotypes |
2,684 Asian Indian men |
11,955 Asian Indian and European individuals |
16q13 18q21.32 2p23.3 8p21.3 |
CETP MC4R GCKR LPL |
rs3764261-? rs12970134-A rs1260326-? rs2083637-? |
NR 0.36 NR NR |
1 x 10-27 (HDL cholesterol) 2 x 10-9 (waist circumference) 4 x 10-8 (triglycerides) 5 x 10-6 (HDL cholesterol) |
NR .88 [0.59-1.17] cm increase NR NR |
Illumina
[308,067] |
N |
11/25/08 |
Loos May 04, 2008 Nat Genet Common variants near MC4R are associated with fat mass, weight and risk of obesity
|
Body mass index |
16,876 individuals |
60,352 individuals |
18q21.32 16q12.2 |
MC4R FTO |
rs17782313-C rs1121980-? |
0.24 NR |
3 x 10-15 4 x 10-8 |
.05 [0.04-0.06] unit increase in log(BMI) .06 [0.04-0.08] unit increase in log(BMI) |
Affymetrix
[344,883] |
N |
11/25/08 |
Poduslo April 30, 2008 Am J Med Genet B Neuropsychiatr Genet Genome Screen of Late-Onset Alzheimer's Extended Pedigrees Identifies TRPC4AP by Haplotype Analysis
|
Alzheimer's disease |
29 siblings from 2 affected families,
60 unrelated controls |
199 patients, 85 spouses |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[469,218] |
N |
11/25/08 |
Richards April 29, 2008 Lancet Bone mineral density, osteoporosis, and osteoporotic fractures: a genome-wide association study
|
Bone mineral density |
2,094 women |
6,463 individuals |
11q13.2 8q24.12 |
LRP5 TNFRSF11B |
rs3736228-T rs4355801-A |
0.14 0.53 |
6 x 10-12 8 x 10-10 |
.13 [NR] SD decrease .09 [NR] SD decrease |
Illumina
[314,075] |
N |
11/25/08 |
Styrkarsdottir April 29, 2008 N Engl J Med Multiple Genetic Loci for Bone Mineral Density and Fractures
|
Bone mineral density (hip) |
5,861 individuals |
7,925 individuals |
1p36.12 8q24.12 6q25.1 13q14.11 6q25.1 18q21.33 |
ZBTB40 OPG ESR1 RANKL ESR1, C6orf97 RANK |
rs7524102-A rs6993813-C rs1038304-G rs9594738-T rs4870044-T rs3018362-A |
0.82 0.50 0.47 0.56 0.28 0.35 |
5 x 10-16 3 x 10-11 5 x 10-9 2 x 10-8 2 x 10-7 1 x 10-6 |
.15 [0.11-0.19] SD decrease .09 [0.07-0.12] SD decrease .08 [0.06-0.11] SD decrease .1 [0.06-0.13] SD decrease .08 [0.05-0.11] SD decrease .07 [0.04-0.10] SD decrease |
Illumina
[301,019] |
N |
11/25/08 |
"
|
Bone mineral density (spine) |
5,861 individuals |
7,925 individuals |
13q14.11 8q24.12 6p25.1 6q25.1 1p36.12 6q25.1 6p21.32 2p16.2 |
RANKL OPG ESR1 ESR1, C6orf97 ZBTB40 ESR1, C6orf97 MHC, C6orf10 SPTBN1 |
rs9594759-T rs6469804-A rs4870044-T rs1038304-G rs7524102-A rs1999805-C rs3130340-T rs11898505-G |
0.62 0.51 0.28 0.47 0.82 0.44 0.79 0.67 |
2 x 10-21 7 x 10-15 2 x 10-11 4 x 10-11 9 x 10-9 2 x 10-8 1 x 10-7 8 x 10-7 |
.17 [0.14-0.21] SD decrease .12 [0.09-0.15] SD decrease .11 [0.08-0.14] SD decrease .1 [0.07-0.13] SD decrease .11 [0.07-0.15] SD decrease .09 [0.06-0.12] SD decrease .1 [0.06-0.13] SD decrease .08 [0.05-0.11] SD decrease |
Illumina
[301,019] |
N |
11/25/08 |
Walsh April 25, 2008 Science Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia
|
Schizophrenia |
150 cases,
268 controls |
83 children,
154 parents |
Pending |
Pending |
Pending |
Pending |
Pending |
Pending |
Illumina
[~550,000] |
Y |
11/25/08 |
Reiner April 24, 2008 Am J Hum Genet Polymorphisms of the HNF1A Gene Encoding Hepatocyte Nuclear Factor-1 Alpha are Associated with C-Reactive Protein
|
C-reactive protein |
909 individuals |
5,106 individuals |
12q24.31 19q13.32 1q23.2 |
HNF1A APOE CRP |
rs1169310-A rs2075650-? rs11265260-? |
0.38 NR NR |
2 x 10-8 1 x 10-7 7 x 10-6 |
.13 [0.08-0.17] mg/l decrease in log(CRP) level NR NR |
Illumina
[317,000] |
N |
11/25/08 |
Ridker April 24, 2008 Am J Hum Genet Loci Related to Metabolic-Syndrome Pathways Including LEPR, HNF1A, IL6R, and GCKR Associate with Plasma C-Reactive Protein: The Women's Genome Health Study
|
C-reactive protein |
6,345 women |
NR |
1q23.2 1p31.3 19q13.32 12q24.31 2p23.3 12q23.2 1q21.3 |
CRP LEPR APOE HNF1A GCKR Unknown IL6R |
rs3091244-? rs1892534-A rs769449-? rs7310409-A rs780094-A rs10778213-G rs8192284-? |
NR NR NR NR NR NR NR |
6 x 10-28 7 x 10-21 9 x 10-21 7 x 10-17 7 x 10-15 1 x 10-10 2 x 10-8 |
.2 [NR] mg/dl increase .17 [NR] mg/dl decrease .26 [NR] mg/dl decrease .15 [NR] mg/dl decrease .14 [NR] mg/dl increase .12 [NR] mg/dl decrease .1 [NR] mg/dl decrease |
Illumina
[336,108] |
N |
11/25/08 |
Ober April 09, 2008 N Engl J Med Effect of Variation in CHI31 on Serum YKL-40 Level, Risk of Asthma, and Lung Function
|
YKL-40 levels |
632 individuals |
206 children |
1q32.1 |
CHI3L1 |
rs4950928-G |
0.29 |
1 x 10-13 |
.3 [NR] ng/ml decrease |
Affymetrix
[290,325] |
N |
11/25/08 |
Gudbjartsson April 06, 2008 Nat Genet Many sequence variants affecting diversity of adult human height
|
Height |
30,968 individuals |
8,541 individuals |
3q23 12q14.3 7p22.2 6q24.1 4q31.22 6p24.3 2p16.1 14q32.12 1q21.2 4p15.32 6p22.1 17q11.2 18q11.2 1q25.3 6p21.31 7q21.2 20p12.3 9q31.2 15q26.3 1q24.3 6p21.32 6p21.31 8q21.11 17q23.2 8q12.1 17q22 12q22 9q32 6q22.32 17q23.3 6p22.3 16q24.1 20q11.22 2p23.3 6q21 15q25.2 9q22.1 19p13.2 2q35 2q37.1 12p12.2 12p13.2 4q21.21 12q15 Xq21.1 6q21 22q11.23 6q22.33-6q23.1 3q26.2 13q14.3 5q31.1 6p12.3 |
ZBTB38 HMGA2 GNA12 GPR126 HHIP BMP6 EFEMP1, PNPT1 TRIP11, FBLN5, ATXN3, CPSF2 Histone class 2A,MTMR11, SV2A, SF3B4 LCORL, NCAPG Histone class 1,Butyrophilin genes CRLF3, ATAD5, CENTA2, RNF135 CABLES1, RBBP8, C18orf45 C1orf19,GLT25D2 HMGA1, LBH CDK6, PEX1, GATAD1, ERVWE1 BMP2 ZNF462 ADAMTS17 DNM3 HLA class III ANKS1A, TCP11, ZNF76, DEF6,SCUBE3 PXMP3, ZFHX4 BCAS3, NACA2, TBX2, TBX4 PLAG1, MOS, CHCHD7,RDHE2, RPS20,LYN, TGS1, PENK NOG, DGKE, TRIM25, COIL, RISK SOCS2, MRPL42, CRADD, UBE2N COL27A1 C6orf173 MAP3K3, WDR68, LYK5, MT1F NUP153, CAP2, KIF13A ZDHHC7, CRISPLD2, USP10 UQCC, GDF5, CEP250, EIF6, MMP24 ADCY3, RBJ, POMC, DNMT3A, DTNB LIN28B, HACE1, BVES, POPDC3 ADAMTSL3, SH3GL3 SPIN1, CCRK ADAMTS10, MYO1F, PRAM1, OR2Z1 IHH, CRYBA2, FEV, SLC23A3, TUBA1 NPPC, DIS3L2, COPS7B, PDE6D, PTMA PDE3A, SLCO1C1, SLCO1B3 ETV6 BMP3, PRKG2, RASGEF1B LYZ,YEATS4,FRS2,CPSF6,CCT2,LRRC10 ITM2A PPIL6, CD164, SMPD2,MNICAL1,ZBTB24 BCR, GNAZ, RTDR1, IGLL1 L3MBTL3, SAMD3 GOLIM4, SERPINI1 DLEU7 PITX1, PCBD2, CATSPER3, TXNDC15,DDX46, CAMLG SUPT3H, RUNX2 |
rs6763931-A rs8756-C rs798544-G rs3748069-A rs1812175-C rs12198986-A rs3791679-T rs7153027-A rs11205277-G rs6830062-T rs10946808-A rs3760318-C rs4800148-A rs2274432-T rs1776897-C rs2282978-C rs967417-C rs4743034-A rs4533267-A rs678962-G rs185819-T rs4713858-G rs7846385-C rs757608-T rs10958476-C rs4794665-A rs3825199-C rs946053-T rs1490388-T rs7209435-C rs12199222-T rs2326458-C rs6088792-T rs6733301-G rs314268-C rs2554380-T rs2814828-T rs7249094-G rs1052483-C rs749052-A rs11611208-A rs2187642-A rs710841-A rs11177669-A rs1474563-T rs9487094-G rs5751614-A rs6899976-G rs4345115-T rs1239947-G rs31198-T rs9395066-C |
0.45 0.52 0.72 0.74 0.86 0.50 0.81 0.52 0.44 0.89 0.70 0.63 0.79 0.37 0.07 0.29 0.53 0.23 0.28 0.22 0.52 0.86 0.27 0.35 0.23 0.48 0.24 0.52 0.42 0.27 0.33 0.26 0.26 0.87 0.34 0.78 0.25 0.59 0.91 0.94 0.06 0.39 0.27 0.31 0.58 0.69 0.49 0.28 0.63 0.35 0.75 0.48 |
1 x 10-27 2 x 10-16 7 x 10-15 5 x 10-14 1 x 10-11 2 x 10-11 6 x 10-11 1 x 10-10 1 x 10-10 1 x 10-10 6 x 10-10 2 x 10-9 4 x 10-9 8 X 10-9 1 x 10-8 1 x 10-8 2 x 10-8 2 x 10-8 3 x 10-8 3 X 10-8 3 x 10-8 4 x 10-8 5 x 10-8 6 x 10-8 7 x 10-8 1 x 10-7 2 x 10-7 2 x 10-7 6 X 10-7 7 x 10-7 7 x 10-7 8 x 10-7 8 x 10-7 8 x 10-7 8 x 10-7 9 x 10-7 9 X 10-7 1 x 10-6 1 x 10-6 1 x 10-6 2 x 10-6 2 x 10-6 2 x 10-6 3 x 10-6 3 x 10-6 4 x 10-6 6 x 10-6 6 X 10-6 7 x 10-6 8 x 10-6 8 x 10-6 8 x 10-6 |
7.4 [6.03-8.77] % SD taller 6.6 [5.03-8.17] % SD taller 5.9 [6.03-8.77] % SD taller 6.5 [5.44-9.36] % SD taller 8.3 [5.95-10.65] % SD taller 6.8 [4.84-8.76] % SD taller 5.8 [4.04-7.56] % SD taller 5.7 [3.94-7.46] % SD taller 5.1 [3.53-6.67] % SD taller 6.3 [4.34-8.26] % SD taller 5.6 [3.84-7.36] % SD taller 6 [4.04-7.96] % SD taller % SD taller 6.4 [4.24-8.56] % SD taller 5.3 [3.54-7.06] % SD taller 8.8 [5.66-11.94] % SD taller 5.8 [3.84-7.76] % SD taller 4.3 [2.73-5.87] % SD taller 5.3 [3.54-7.06] % SD taller 5.6 [3.64-7.56] % SD taller % SD taller 5.4 [3.44-7.36] % SD taller 5.2 [3.44-6.96] % SD taller 6.8 [4.45-9.15] % SD taller 5 [3.24-6.76] % SD taller 4.4 [2.83-5.97] % SD taller 5.4 [3.44-7.36] % SD taller 3.6 [2.23-4.97] % SD taller 6.2 [3.85-8.55] % SD taller 4.4 [2.83-5.97] % SD taller 4.8 [2.84-6.76] % SD taller 4.8 [2.84-6.76] % SD taller 4.4 [2.64-6.16] % SD taller 5.1 [3.14-7.06] % SD taller 4.7 [2.74-6.66] % SD taller 7.5 [4.56-10.44] % SD taller 4.6 [2.84-6.36] % SD taller 4.5 [2.74-6.26] % SD taller 5.4 [3.24-7.56] % SD taller 4.3 [2.54-6.06] % SD taller 6.9 [4.16-9.64] % SD taller 8.7 [5.17-12.23] % SD taller 11.4 [6.7-16.1] % SD taller 4.6 [2.64-6.56] % SD taller 5 [3.04-6.96] % SD taller 4.5 [2.54-6.46] % SD taller 3.5 [1.93-5.07] % SD taller 4.7 [2.74-6.66] % SD taller 4.3 [2.34-6.26] % SD taller 3.8 [2.23-5.37] % SD taller 4.4 [2.44-6.36] % SD taller 3.8 [2.23-5.37] % SD taller 4.8 [2.64-6.96] % SD taller 3.5 [1.93-5.07] % SD taller |
Illumina and Affymetrix
[up to 304,226] |
N |
11/25/08 |
Lettre April 06, 2008 Nat Genet Identification of ten loci associated with height highlights new biological pathways in human growth
|
Height |
15,821 individuals |
13,671 individuals |
3q23 12q14.3 6q24.3 6q22.1 20q11.22 4q31.22 14q32.12 6q21 19p13.3 15q25.2 7q36.3 7q21.2 8q12.1 9q34.11 9q33.1 17q22 16p13.3 14q13.3 |
ZBTB38 HMGA2 GPR126 HIST1H1D GDF5,UQCC HHIP TRIP11,ATXN3 LIN28B DOT1L SH3GL3,ADAMTSL3 WDR60 CDK6 CHCHD7,RDHE2 FUBP3 PAPPA ANKFN1 RAB40C NKX2-1 |
rs724016-G rs1042725-T rs4896582-A rs10946808-G rs6060369-C rs1492820-G rs8007661-T rs314277-A rs12986413-T rs2562784-G rs2730245-G rs2040494-C rs9650315-T rs7466269-G rs7869550-G rs12449568-C rs763014-C rs17104630-G |
0.48 0.49 0.27 0.28 0.36 0.48 0.30 0.13 0.45 0.17 0.33 0.50 0.13 0.33 0.24 0.47 0.43 0.04 |
8 x 10-22 3 x 10-20 2 x 10-18 4 x 10-17 1 x 10-16 1 x 10-11 6 x 10-10 1 x 10-8 3 x 10-8 6 x 10-8 3 x 10-7 4 x 10-7 4 x 10-7 8 x 10-7 1 x 10-6 2 x 10-6 5 x 10-6 8 x 10-6 |
.37 [0.29-0.45] cm taller .48 [0.58-1.09] cm shorter .38 [0.28-0.48] cm shorter .36 [0.26-0.46] cm shorter .44 [0.34-0.72] cm taller .29 [0.21-0.37] cm shorter .42 [0.30-0.54] cm shorter .41 [0.26-0.59] cm taller .31 [0.21-0.46] cm taller .34 [0.21-0.48] cm taller .32 [0.19-0.44] cm taller .26 [0.36-0.65] cm shorter .43 [0.59-1.07] cm shorter .27 [0.38-0.69] cm shorter .33 [0.45-0.82] cm shorter .25 [0.15-0.35] cm taller .24 [0.12-0.29] cm taller .42 [0.61-1.10] cm shorter |
Affymetrix and Illumina
[2,260,683]
(imputed) |
N |
11/25/08 |
Weedon April 06, 2008 Nat Genet Genome-wide association analysis identifies 20 loci that influence adult height
|
Height |
13,665 individuals |
16,482 individuals |
3q23
7q21.2 12q14.3
20q11.22
4p15.32 6q22.32 2p16.1 6p21.31 1p12 9q22.32 12q22 4q31.22 1q42.13 13q14.3 15q25.2 1p34.2 2q35 3q22.2 15q26.1 18q21.1 |
ZBTB38
CDK6 HMGA2
GDF5
LCORL LOC387103 EFEMP1 C6orf106 SPAG17 PTCH1 SOCS2 HHIP ZNF678 DLEU7 ADAMTSL3 SCMH1 IHH ANAPC13,CEP63 ACAN DYM |
rs6440003-A
rs2282978-C rs1042725-C
rs6060373-G
rs16896068-A rs4549631-C rs3791675-C rs2814993-A rs12735613-A rs10512248-G rs11107116-G rs6854783-A rs1390401-A rs3116602-G rs10906982-A rs6686842-C rs6724465-A rs10935120-A rs8041863-A rs8099594-A |
0.44
0.33 0.49
0.38
0.16 0.50 0.23 0.15 0.24 0.31 0.23 0.43 0.18 0.21 0.48 0.44 0.10 0.33 0.47 0.35 |
2 x 10-24
8 x 10-23 3 x 10-18
2 x 10-17
2 x 10-13 5 x 10-13 2 x 10-12 4 x 10-12 4 x 10-11 4 x 10-11 6 x 10-10 2 x 10-9 5 x 10-9 7 x 10-9 2 x 10-8 2 x 10-8 2 x 10-8 7 x 10-8 8 x 10-8 3 x 10-7 |
.07 [0.04-0.09] SD taller - among males .09 [0.06-0.12] SD taller - among males .05 [0.03-0.08] SD taller - among males .08 [0.05-0.11] SD shorter - among males .07 [0.03-0.11] SD shorter - among males .06 [0.03-0.08] SD taller - among males .09 [0.05-0.12] SD taller - among males .09 [0.05-0.13] SD taller - among males .08 [0.05-0.11] SD shorter - among males .05 [0.02-0.07] SD taller - among males .04 [0.01-0.07] SD shorter - among males .06 [0.03-0.08] SD taller - among males .04 [0.01-0.08] SD taller - among males .04 [0.00-0.07] SD shorter - among males .05 [0.02-0.07] SD taller - among males .05 [0.02-0.08] SD shorter - among males .06 [0.02-0.10] SD shorter - among males .06 [0.03-0.09] SD shorter - among males .04 [0.01-0.06] SD taller - among males .05 [0.02-0.08] SD taller - among males |
Affymetrix
[402,951] |
N |
11/25/08 |
Liu April 04, 2008 PLoS Genet A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease Loci
|
Psoriasis |
218 cases,
519 controls |
1,153 cases,
1,217 controls |
6p21.33 6p21.33 13q13 |
HLA-C HLA-C COG6 |
rs10484554-T rs2395029-C rs7993214-? |
0.15 0.03 0.65 |
2 x 10-39 2 x 10-26 2 x 10-6 |
2.8 [2.40-3.30] 4.1 [3.10-5.30] 1.41 [1.22-1.61] |
Illumina
[305,983] |
N |
11/25/08 |
Amos April 03, 2008 Nat Genet Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at 15q25.1
|
Lung cancer |
1,154 cases,
1,137 controls |
2,724 cases,
3,694 controls |
15q25.1 1q23.2 3q28 |
CHRNA3, CHRNA5, PSMA4, LOC123688 CRP IL1RAP |
rs8034191-G rs2808630-G rs7626795-G |
NR NR NR |
3 x 10-18 7 x 10-6 8 x 10-6 |
1.3 [1.15-1.47] 1.22 [1.10-1.35] 1.16 [1.05-1.28] |
Illumina
[317,498] |
N |
11/25/08 |
Hung April 03, 2008 Nature A susceptibility locus for lung cancer maps to nicotinic acteylcholine receptor subunit genes on 15q25
|
Lung cancer |
1,926 cases,
2,522 controls |
2,513 cases,
4,752 controls |
15q25.1 |
CHRNA3,CHRNA5, CHRNB4, PSMA4, LOC123688 |
rs8034191-C |
0.34 |
5 x 10-20 |
1.3 [1.23-1.37] |
Illumina
[310,023] |
N |
11/25/08 |
Thorgeirsson April 03, 2008 Nature A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
|
Nicotine dependence |
10,995 smokers |
4,848 smokers
|
15q25.1 |
CHRNA3,CHRNA5,CHRNB4 |
rs1051730-T |
0.35 |
6 x 10-20 |
.1 [0.08-0.12] increase in cigarettes per day |
Illumina
[306,207] |
N |
11/25/08 |
Tenesa March 30, 2008 Nat Genet Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replicates risk loci at 8q24 and 18q21
|
Colorectal cancer |
981 cases,
1,002 controls |
16,476 cases,
15,351 controls |
18q21.1 8q24.21 11q23.1 |
SMAD7 POU5FIP1, HsG57825, DQ515897 Intergenic |
rs4939827-T rs7014346-A rs3802842-C |
0.17 0.18 0.43 |
8 x 10-28 9 x 10-26 6 x 10-10 |
1.2 [1.16-1.24] 1.19 [1.15-1.23] 1.11 [1.08-1.15] |
Illumina
[541,628] |
N |
11/25/08 |
Tomlinson March 30, 2008 Nat Genet A genome-wide association study identifies colorectal cancer susceptibility loci on chromosome 10p14 and 8q23.3
|
Colorectal cancer |
922 cases, 927 controls |
17,872 cases,
17,526 controls |
8q23.3 10p14 8q24.21 15q13.3 18q21.1 |
EIF3H Intergenic Intergenic Intergenic SMAD7 |
rs16892766-A rs10795668-A rs6983267-? rs4779584-? rs4939827-? |
0.07 0.67 0.48 0.19 0.53 |
3 x 10-18 3 x 10-13 7 x 10-11 5 x 10-7 2 x 10-6 |
1.27 [1.20-1.34] 1.12 [1.10-1.16] 1.24 [1.17-1.33] 1.23 [1.14-1.34] 1.18 [1.10-1.25] |
Illumina
[547,647] |
N |
11/25/08 |
Zeggini March 30, 2008 Nat Genet Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes
|
Type 2 diabetes |
4,549 cases,
5,579 controls |
24,194 cases,
55,598 controls |
10q25.2 7p15.1 6p22.3 10p13 12q21.1 2p21 3p14.1 1p12 10q23.33 3q27.2 12q13.2 3p25.2 9p21.3 11p15.1 6p21.1 16q12.2 |
TCF7L2 JAZF1 CDKAL1 CDC123,CAMK1D TSPAN8,LGR5 THADA ADAMTS9 NOTCH2, ADAM30 HHEX IGF2BP2 DCD SYN2, PPARG CDKN2A,CDKN2B KCNJ11 VEGFA FTO |
rs7903146-T rs864745-T rs6931514-G rs12779790-G rs7961581-C rs7578597-T rs4607103-C rs10923931-T rs5015480-C rs4402960-T rs1153188-A rs17036101-G rs7020996-C rs5215-C rs9472138-T rs8050136-A |
NR 0.50 NR 0.18 0.27 0.90 0.76 0.11 NR NR 0.73 0.93 NR NR 0.28 NR |
3 x 10-23 5 x 10-14 1 x 10-11 1 x 10-10 1 x 10-9 1 x 10-9 1 x 10-8 4 x 10-8 7 x 10-8 8 x 10-8 2 x 10-7 2 x 10-7 2 x 10-7 4 x 10-7 4 x 10-6 7 x 10-6 |
1.37 [1.28-1.47] 1.1 [1.07-1.13] 1.25 [1.17-1.33] 1.11 [1.07-1.14] 1.09 [1.06-1.12] 1.15 [1.10-1.20] 1.09 [1.06-1.12] 1.13 [1.08-1.17] 1.17 [1.11-1.24] 1.17 [1.10-1.25] 1.08 [1.05-1.11] 1.15 [1.10-1.21] 1.26 [1.15-1.38] 1.16 [1.09-1.23] 1.06 [1.04-1.09] 1.15 [1.09-1.22] |
Affymetrix and Illumina
[2,202,892]
(imputed) |
N |
11/25/08 |
Butcher March 25, 2008 Behav Genet The Nature of Nuture: A Genomewide Association Scan for Family Chaos
|
Environmental confusion in the home |
469 children from low chaos families,369 children from high chaos families |
3,529 children |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[117,062] (pooled) |
N |
11/25/08 |
Capon March 25, 2008 Hum Mol Genet Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene
|
Psoriasis |
318 cases,
288 controls |
2,361 cases,
1,927 controls |
6p21.33 20q13.13 |
HLA-C SPATA2 |
rs3134792-? rs495337-? |
NR NR |
1 x 10-9 1 x 10-8 |
NR 1.25 [1.12-1.39] |
Illumina
[~408,000]
(pooled) |
N |
11/25/08 |
Sullivan March 18, 2008 Mol Psychiatry Genomewide association for schizophrenia in the CATIE study: results of stage 1
|
Schizophrenia |
738 cases,
733 controls |
NR |
15q25.3 1q31.1 1p36.22 13q12.2 16p12.2 Xq28 |
AGBL1 Intergenic Intergenic Intergenic ACSM1, BUCS1 Intergenic |
rs16977195-? rs10911902-? rs4846033-? rs9512730-? rs151222-? rs2159767-? |
0.03 0.17 0.01 0.26 0.08 0.62 |
2 x 10-6 2 x 10-6 4 x 10-6 5 x 10-6 6 x 10-6 7 x 10-6 |
6.01 [NR] 1.79 [NR] 2.87 [NR] 1.52 [NR] 2.1 [NR] 1.33 [NR] |
Affymetrix
[492,900] |
N |
11/25/08 |
Gold March 11, 2008 Proc Natl Acad Sci USA Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33
|
Breast cancer |
249 cases,
299 controls
(Ashkenazi Jewish, non-BRCA1/2 carriers) |
1,193 cases,
1,166 controls
(Ashkenazi Jewish, non-BRCA1/2 carriers) |
6q22.33 |
ECHDC1,RNF146 |
rs2180341-G |
0.21 |
3 x 10-8 |
1.41 [1.25-1.59] |
Affymetrix
[150,080] |
N |
11/25/08 |
Kirov March 11, 2008 Mol Psychiatry A genome-wide association study in 574 schizophrenia trios using DNA pooling
|
Schizophrenia |
574 cases, 605 controls,
1,148 parents of cases |
NR |
12q24.23 |
CCDC60 |
rs11064768-A |
0.91 |
1 x 10-6 |
NR |
Illumina
[~550,000]
(pooled) |
N |
11/25/08 |
Doring March 09, 2008 Nat Genet SLC2A9 influences uric acid concentrations with pronounced sex-specific effects
|
Serum urate |
1,644 individuals |
9,947 individuals |
4p16.1 |
SLC2A9 |
rs7442295-C |
0.40 |
3 x 10-70 |
.35 [NR] mg/dl decrease in uric acid |
Affymetrix
[335,152] |
N |
11/25/08 |
Vitart March 09, 2008 Nat Genet SLC2A9 is a newly identified urate transporter influencing serum urate concentration, urate excretion and gout
|
Serum urate |
794 individuals |
706 individuals |
4p16.1 |
SLC2A9 |
rs737267-C |
0.31 |
3 x 10-9 |
.88 [NR] uM decrease in uric acid [females only] |
Illumina
[308,140] |
N |
11/25/08 |
Liu March 05, 2008 Hum Mol Genet Genome-wide association scans identified CTNNBL1 as a novel gene for obesity
|
Obesity |
1,000 individuals |
896 obese individuals,
2,916 lean individuals |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[379,319] |
N |
11/25/08 |
Sklar March 04, 2008 Mol Psychiatry Whole-genome association study of bipolar disorder
|
Bipolar disorder |
1,461 cases,
2,008 controls |
409 trios, 365 cases, 351 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[372,193] |
N |
11/25/08 |
Hunt March 02, 2008 Nat Genet Newly identified genetic risk variants for celiac disease related to the immune response
|
Celiac disease |
767 cases,
1,422 controls |
1,643 cases,
3,406 controls |
4q27 1q31.2 3q25.33 2q12.1 3q28 6q25.3 12q24.12 3p21.31 |
KIAA1109, ADAD1, IL2, IL21 RGS1 IL12A, SCHIP1 IL1RL1,IL18R1,IL18RAP, SLC9A4 LPP TAGAP SH2B3, ATXN2 CCR1, CCR3 |
rs6822844-C rs2816316-C rs17810546-G rs13015714-C rs1464510-A rs1738074-A rs653178-G rs6441961-A |
0.81 NR NR NR NR NR 0.48 0.30 |
3 x 10-13 3 x 10-11 1 x 10-9 4 x 10-9 5 x 10-9 7 x 10-8 8 x 10-8 3 x 10-7 |
1.44 [1.30-1.58] 1.39 [1.26-1.53] 1.35 [1.23-1.49] 1.28 [1.18-1.39] 1.23 [1.15-1.32] 1.21 [1.13-1.30] 1.21 [1.13-1.30] 1.21 [1.13-1.30] |
Illumina
[310,605] |
N |
11/25/08 |
Uhl March 01, 2008 Arch Gen Psychiatry Genome-wide association for methamphetamine dependence: convergent results from 2 samples
|
Methamphetamine dependence |
240 cases, 340 controls |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[up to 466,883]
(pooled) |
N |
11/25/08 |
Blauw February 29, 2008 Lancet Neurol Copy-number variation in sporadic amyotrophic lateral sclerosis: a genome-wide screen
|
Amyotrophic lateral sclerosis |
406 cases,
404 controls |
NR |
Pending |
Pending |
Pending |
Pending |
Pending |
Pending |
Illumina
[317,503] |
Y |
11/25/08 |
Shifman February 15, 2008 PLoS Genet Genome-Wide Association Identifies a Common Variant in the Reelin Gene That Increases the Risk of Schizophrenia Only in Women
|
Schizophrenia |
660 cases,
2,271 controls |
2,274 cases,
4,401 controls |
7q22.1 |
RELN |
rs7341475-G |
0.62 |
9 x 10-7 |
1.58 [1.31-1.89] |
Affymetrix [510,552] |
N |
11/25/08 |
Eeles February 10, 2008 Nat Genet Multiple newly identified loci associated with prostate cancer susceptibility
|
Prostate cancer |
1,854 cases, 1,894 controls |
3,268 cases, 3,366 controls |
10q11.23 19q13.33 8q24.21 8q24.21 11q13.2 17q12 6q25.3 7q21.3 Xp11.22 3p12.1 8q24.21 17q24.3 |
MSMB KLK3 Intergenic Intergenic Intergenic HNF1B SLC22A3 LMTK2 NUDT10, NUDT11 SLC22A3 Intergenic Intergenic |
rs10993994-T rs2735839-G rs4242384-C rs6983267-G rs7931342-G rs7501939-C rs9364554-T rs6465657-C rs5945619-C rs2660753-T rs1016343-T rs1859962-G |
0.40 0.85 0.09 0.49 0.51 0.57 0.29 0.46 0.36 0.11 0.18 0.46 |
9 x 10-29 2 x 10-18 3 x 10-16 9 x 10-13 2 x 10-12 9 x 10-12 6 x 10-10 1 x 10-9 2 x 10-9 3 x 10-8 1 x 10-7 1 x 10-6 |
1.25 [1.17-1.34] 1.2 [1.10-1.33] 1.88 [NR] 1.42 [NR] 1.19 [1.11-1.27] 1.41 [NR] 1.17 [1.08-1.26] 1.12 [1.05-1.20] 1.19 [1.07-1.31] 1.18 [1.06-1.31] 1.37 [NR] 1.26 [NR] |
Illumina [541,129] |
N |
11/25/08 |
Gudmundsson February 10, 2008 Nat Genet Common sequence variants on 2p15 and Xp11.22 confer susceptibility to prostate cancer
|
Prostate cancer |
1,854 cases,
21,372 controls |
8,239 cases,
7,590 controls |
Xp11.22 2p15 |
NUDT10, NUDT11, LOC340602, GSPT2, MAGED1 EHBP1 |
rs5945572-A rs721048-A |
0.35 0.19 |
4 x 10-13 8 x 10-9 |
1.23 [1.16-1.30] 1.15 [1.10-1.21] |
Illumina
[310,520] |
N |
11/25/08 |
Thomas February 10, 2008 Nat Genet Multiple loci identified in a genome-wide association study of prostate cancer
|
Prostate cancer |
1,172 cases,
1,157 controls |
3,941 cases,
3,964 controls |
8q24.21 10q11.23 8q24.21 17q12 11q13.2 10q26.13 7p15.2 |
Intergenic MSMB Intergenic HNF1B Intergenic CTBP2 JAZF1 |
rs4242382-A rs10993994-T rs6983267-G rs4430796-A rs10896449-G rs4962416-C rs10486567-G |
0.12 0.40 0.53 0.54 0.52 0.27 0.77 |
3 x 10-19 7 x 10-13 7 x 10-12 1 x 10-9 2 x 10-9 2 x 10-7 2 x 10-6 |
1.66 [1.47-1.87] 1.16 [1.04-1.29] 1.28 [1.15-1.45] 1.18 [1.04-1.32] 1.1 [0.98-1.23] 1.17 [1.05-1.30] 1.12 [1.02-1.25] |
Illumina
[527,869] |
N |
11/25/08 |
Sandhu February 09, 2008 Lancet LDL-cholesterol concentrations: a genome-wide association study
|
LDL cholesterol |
11,685 individuals |
5,036 individuals |
1p13.3 19q13.32 2p24.1 |
CELSR2,PSRC1 APOC1 APOB |
rs599839-G rs4420638-G rs562338-T |
0.19 0.18 0.20 |
1 x 10-33 1 x 10-20 1 x 10-9 |
.16 [0.14-0.18] mmol/L decrease .06 [0.04-0.08] mmol/L increase .04 [0.02-0.06] mmol/L decrease |
Affymetrix and Illumina [up to 461,986] |
N |
11/25/08 |
Uda February 05, 2008 Proc Natl Acad Sci USA Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
|
Fetal hemoglobin levels |
4,305 individuals |
521 individuals |
2p15 11p15.4 |
BCL11A HBB
|
rs1186868-T rs4910742-A |
0.20 0.07 |
7 x 10-35 1 x 10-21 |
.48 [NR] SD decrease in HbF .58 [NR] SD decrease in HbF |
Affymetrix [362,129] |
N |
11/25/08 |
Kong February 02, 2008 Science Sequence Variants in the RNF212 Gene Associate with Genomewide Recombination Rate
|
Recombination rate (females) |
1,702 women |
1,663 women |
4p16.3 |
RNF212,SPON2 |
rs1670533-C |
0.23 (men and women combined) |
2 x 10-12 |
88.2 [63.7-112.7] cM increase |
Illumina
[309,241] |
N |
11/25/08 |
"
|
Recombination rate (males) |
1,887 men |
1,248 men |
4p16.3 |
RNF212,SPON2 |
rs3796619-T |
0.33 (men and women combined) |
3 x 10-24 |
70.7 [84.3-57.1] cM decrease |
Illumina [309,241] |
N |
12/11/08 |
Berrettini January 29, 2008 Mol Psychiatry Alpha-5/alpha-3 nicotinic receptor subunit alleles increase risk for heavy smoking
|
Nicotine dependence |
7,481 individuals |
~2000 individuals |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[460,959] |
N |
11/25/08 |
Kayser January 24, 2008 Am J Hum Genet Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene
|
Iris color |
1,406 individuals |
8,273 individuals |
15q13.1 |
HERC2 |
rs916977-? |
NR |
1 x 10-43 |
NR |
Affymetrix and Illumina
[up to ~500,000]
(pooled) |
N |
11/25/08 |
Butcher January 22, 2008 Genes Brain Behav Genome-wide quantitative trait locus association scan of general cognitive ability using pooled DNA and 500K single nucleotide polymorphism microarrays
|
General cognitive ability |
458 low g, 402 high g twin children (unrelated) |
3,195 twin children (unrelated) |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[449,127] |
N |
11/25/08 |
Harley January 20, 2008 Nat Genet Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci
|
Systemic lupus erythematosus in women |
720 cases,
2,337 controls |
1,846 cases,
1,825 controls |
6p21.33 16p11.2 7q32.1 11p15.5 3p14.3 1q25.1 |
HLA region ITGAM IRF5, TNPO3 KIAA1542 PXK Intergenic |
rs3131379-A rs9888739-T rs12537284-A rs4963128-? rs6445975-C rs10798269-? |
0.1 0.13 0.13 0.34 0.28 0.64 |
2 x 10-52 2 x 10-23 4 x 10-19 3 x 10-10 7 x 10-9 1 x 10-7 |
2.36 [2.11-2.64] 1.62 [1.47-1.78] 1.54 [1.40-1.70] 1.28 [1.18-1.37] 1.25 [1.16-1.35] 1.22 [1.14-1.32] |
Illumina
[317,501] |
N |
11/25/08 |
Hom January 20, 2008 N Engl J Med Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX
|
Systemic lupus erythematosus |
1,311 cases,
3,340 controls |
793 cases,
857 controls |
6p21.32 2q32.3 7q32.1 16p11.2 8p23.1 9q34.13 5p12 18q22.3 1p31.3 |
HLA-DQA1 STAT4 IRF5, TNPO3 ITGAM, ITGAX C8orf13, BLK NTNG2 GHR SOCS6 NEGR1 |
rs2187668-A rs7574865-T rs10488631-C rs11574637-C rs13277113-A rs11243676-A rs979233-T rs17083844-A rs12141391-A |
0.11 0.23 0.12 0.19 0.23 0.07 0.46 0.03 0.02 |
3 x 10-21 9 x 10-14 2 x 10-11 3 x 10-11 1 x 10-10 3 x 10-6 4 x 10-6 6 x 10-6 7 x 10-6 |
NR NR NR 1.33 [1.22-1.46] 1.39 [1.28-1.51] NR NR NR NR |
Illumina
[502,033] |
N |
11/25/08 |
Kozyrev January 20, 2008 Nat Genet Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus
|
Systemic lupus erythematosus |
279 cases,
515 controls |
1,757 cases,
1,540 controls |
4q24 |
BANK1 |
rs10516487-G |
0.77 |
4 x 10-10 |
1.38 [1.25-1.53] |
Affymetrix
[85,042] |
N |
11/25/08 |
Hakonarson January 15, 2008 Diabetes A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study
|
Type 1 diabetes |
467 trios, 561 cases, 1,143 controls |
549 families, 364 trios |
12q13.2 |
RAB5B, SUOX, IKZF4, ERBB3, CDK2 |
rs1701704-C |
0.35 |
9 x 10-10 |
1.25 [1.12-1.40] |
Illumina
[543,071] |
N |
11/25/08 |
Byun January 14, 2008 Arch Neurol Genome-Wide Pharmacogenomic Analysis of the Response to Interferon Beta Therapy in Multiple Sclerosis
|
Response to interferon beta therapy |
206 multiple sclerosis cases |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[~100,000]
(pooled) |
N |
11/25/08 |
Kathiresan January 13, 2008 Nat Genet Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans
|
HDL cholesterol |
2,758 individuals |
18,544 individuals |
16q13 15q22.1 8p21.3 1q42.13 9q31.1 18q21.1 |
CETP LIPC LPL GALNT2 ABCA1 LIPG, ACAA2 |
rs1800775-C rs1800588-T rs328-G rs4846914-G rs3890182-A rs2156552-A |
0.51 0.21 0.09 0.40 0.13 0.18 |
1 x 10-73 2 x 10-32 9 x 10-23 2 x 10-13 3 x 10-10 2 x 10-7 |
.18 [0.16-0.20]% SD lower .14 [0.12-0.16]% SD higher .17 [0.13-0.21]% SD higher .07 [0.05-0.09] % SD higher .1 [0.06-0.14]% SD lower .07 [0.05-0.09]% SD lower |
Affymetrix
[389,878] |
N |
11/25/08 |
"
|
LDL cholesterol |
2,758 individuals |
18,544 individuals |
19q13.32 19p13.2 1p32.3 1p13.3 2p24.1 5q13.3 19p13.11 |
APOE, APOC1, APOC4, APOC2 LDLR PCSK9 CELSR2,PSRC1,SORT1 APOB HMGCR CILP2, PBX4 |
rs4420638-G rs6511720-T rs11591147-T rs646776-C rs693-A rs12654264-T rs16996148-G |
0.20 0.10 0.01 0.24 0.48 0.39 0.90 |
1 x 10-60 2 x 10-51 2 x 10-44 3 x 10-29 1 x 10-21 1 x 10-20 3 x 10-8 |
.19 [0.15-0.23] % SD higher .26 [0.22-0.30] % SD lower .47 [0.41-0.53] % SD lower .16 [0.14-0.18] % SD lower .12 [0.10-0.14] % SD higher .1 [0.08-0.12] % SD higher .1 [0.06-0.14] % SD lower |
Affymetrix
[389,878] |
N |
11/25/08 |
"
|
Triglycerides |
2,758 individuals |
18,544 individuals |
8p21.3 7q11.23 11q23.3 8q24.13 1q42.13 2p23.3 19p13.11 1p31.3 2p24.1 |
LPL BCL7B, TBL2, MLXIPL APOA1, APOC3, APOA4, APOA5, ZNF259, BUD13 TRIB1 GALNT2 GCKR CILP2, PBX4 ANGPTL3, DOCK7, ATG4C APOB |
rs328-G rs17145738-T rs28927680-G rs17321515-A rs4846914-G rs780094-T rs16996148-G rs12130333-C rs693-A |
0.09 0.13 0.07 0.49 0.40 0.34 0.90 0.78 0.48 |
2 x 10-28 7 x 10-22 2 x 10-17 4 x 10-17 7 x 10-15 3 x 10-14 4 x 10-9 2 x 10-8 2 x 10-7 |
.19 [0.15-0.23]% SD lower .14 [0.25-0.53] % SD lower .26 [0.20-0.32]% SD higher .08 [0.06-0.10] % SD lower .08 [0.06-0.10] % SD higher .13 [0.09-0.17]% SD higher .1 [0.06-0.14] % SD lower .11 [0.07-0.15] % SD lower .08 [0.04-0.12]% SD higher |
Affymetrix
[389,878] |
N |
11/25/08 |
Kooner January 13, 2008 Nat Genet Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
|
Triglycerides |
2,011 individuals |
10,536 individuals |
11q23.3 8p21.3 7q11.23 11q23.3 |
LOC440069, MGC13125 LPL, C8orf35, SLC18A1 MLXIPL APOA1,KIAA0999,LOC645044 |
rs1558861-A rs326-A rs3812316-C rs2075292-G |
0.18 0.78 0.95 0.24 |
2 x 10-26 5 x 10-12 1 x 10-10 5 x 10-8 |
17 [13.28-20.72] % higher 6.6 [3.66-9.54] % higher 10.5 [5.3-17.7]% higher 8.7 [5.76-11.64] % higher |
Perlegen
[up to 216,774] |
N |
11/25/08 |
Sanna January 13, 2008 Nat Genet Common variants in the GDF5-UQCC region are associated with variation in human height
|
Height |
6,669 individuals |
28,801 individuals |
20q11.22
4q12
15q26.1
3q23
5q14.1 |
BFZB
PDGFRA
POLG
ZBTB38
HOMER1 |
rs6060369-C
rs17690232-C
rs4932217-A
rs724016-G
rs10078095-C |
0.44
0.80
0.58
0.36
0.22 |
2 x 10-16
4 x 10-7
8 x 10-7
1 x 10-6
3 x 10-6 |
.44 [NR] cm taller .86 [NR] cm taller .66 [NR] cm taller .61 [NR] cm taller .9 [NR] cm taller |
Illumina and Affymetrix
[~2,261,000] (imputed) |
N |
11/25/08 |
Willer January 13, 2008 Nat Genet Newly identified loci that influence lipid concentrations and risk of coronary artery disease
|
HDL cholesterol |
8,656 individuals |
11,399 individuals |
16q13 16q13 16q13 15q22.1 8p21.3 1q42.13 18q21.1 9q31.1 12q24.11 16q22.1 |
CETP CETP CETP LIPC LPL GALNT2 LIPG ABCA1 MVK,MMAB LCAT |
rs3764261-A rs1864163-G rs9989419-G rs4775041-C rs10503669-A rs2144300-T rs2156552-T rs4149268-C rs2338104-G rs255052-A |
0.69 0.80 0.65 0.67 0.10 0.40 0.84 0.36 0.45 0.17 |
2 x 10-57 7 x 10-39 3 x 10-31 3 x 10-20 4 x 10-19 3 x 10-14 6 x 10-12 1 x 10-10 3 x 10-8 1 x 10-7 |
3.47 [NR] mg/dl higher 4.12 [NR] mg/dl higher 1.72 [NR] mg/dl higher 1.38 [NR] mg/dl higher 2.09 [NR] mg/dl higher 1.11 [NR] mg/dl higher 1.2 [NR] mg/dl higher .82 [NR] mg/dl higher .48 [NR] mg/dl higher .74 [NR] mg/dl higher |
Illumina and Affymetrix
[~2,261,000] (imputed) |
N |
11/25/08 |
"
|
LDL cholesterol |
8,589 individuals |
7,440-10,783 individuals |
19q13.32 1p13.3 19p13.2 2p24.1 1p32.3 19p13.11
6p21.32 |
APOE,APOC1,APOC4 CELSR2,PSRC1,SORT1 LDLR APOB PCSK9 NCAN,CILP2
B3GALT4 |
rs4420638-G rs599839-A rs6511720-G rs562338-G rs11206510-T rs16996148-G
rs2254287-G |
0.82 0.77 0.90 0.18 0.81 0.89
0.38 |
3 x 10-43 6 x 10-33 4 x 10-26 6 x 10-22 4 x 10-11 3 x 10-9
5 x 10-8 |
6.61 [NR] mg/dl higher 5.48 [NR] mg/dl higher 9.17 [NR] mg/dl higher 4.89 [NR] mg/dl higher 3.04 [NR] mg/dl higher 3.32 [NR] mg/dl higher 1.91 [NR] mg/dl higher |
Illumina and Affymetrix
[~2,261,000] (imputed) |
N |
11/25/08 |
"
|
Triglycerides |
8,684 individuals |
5,312-9,707 individuals |
2p23.3 11q23.3 8p21.3
8q24.13
7q11.23
1p31.3
19p13.3 15q22.1 1q42.13 |
GCKR APOA5, APOA4, APOC3, APOA1 LPL
TRIB1
MLXIPL
ANGPTL3
NCAN,CILP2 LIPC GALNT2 |
rs780094-T rs12286037-T rs10503669-C
rs17321515-A
rs17145738-C
rs1748195-C
rs16996148-G rs4775041-C rs2144300-C |
0.39 0.94 0.90
0.56
0.84
0.70
0.92 0.67 0.60 |
6 x 10-32 1 x 10-26 4 x 10-22
7 x 10-13
2 x 10-12
2 x 10-10
3 x 10-9 2 x 10-8 8 x 10-7 |
8.59 [NR] mg/dl higher 25.82 [NR] mg/dl higher 11.57 [NR] mg/dl higher 6.42 [NR] mg/dl higher 8.21 [NR] mg/dl higher 7.12 [NR] mg/dl higher 6.1 [NR] mg/dl higher 3.62 [NR] mg/dl higher 4.25 [NR] mg/dl higher |
Illumina and Affymetrix
[~2,261,000]] (imputed) |
N |
11/25/08 |
Wallace January 10, 2008 Am J Hum Genet Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia
|
LDL cholesterol |
1,955 hypertensive individuals |
2,033 individuals in 519 families;
1,461 twins (1/pair selected randomly) |
11q23.3 1p13.3 2p23.3 |
APOA1,APOC3,APOA5 CELSR2,PSRC1 GCKR |
rs6589566-G rs599839-G rs780094-T |
0.06 0.24 0.39 |
3 x 10-11 1 x 10-7 5 x 10-7 |
NR .95 [0.93-0.97] NR |
Affymetrix
[400,496] |
N |
11/25/08 |
"
|
Serum urate |
1,955 hypertensive individuals |
2,033 individuals in 519 families;
1,461 twins (1/pair selected randomly) |
4p16.1 |
SLC2A9,WDR1 |
rs7442295-A |
0.79 |
2 X 10-15 |
.02 [0.02-0.03] mMol/L higher |
Affymetrix [400,496] |
N |
11/25/08 |
Hinney December 26, 2007 PLoS ONE Genome Wide Association (GWA) Study for Early Onset Extreme Obesity Supports the Role of Fat Mass and Obesity Associated Gene (FTO) Variants
|
Obesity (early onset extreme) |
487 young cases,
442 controls |
2,269 individuals in 644 families |
16q12.2 |
FTO |
rs1121980-T |
0.41 |
1 x 10-7 |
1.66 [1.37-2.01] |
Affymetrix
[440,794] |
N |
11/25/08 |
Duggan December 19, 2007 J Natl Cancer Inst Two genome-wide association studies of aggressive prostate cancer implicate putative prostate tumor suppressor gene DAB2IP
|
Prostate cancer |
1,235 cases,
1,599 controls |
1,242 cases,
917 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Illumina & Affymetrix
[60,275] |
N |
11/25/08 |
van Es December 16, 2007 Nat Genet Genetic variation in DPP6 is associated with susceptibility to amyotrophic lateral sclerosis
|
Amyotrophic lateral sclerosis |
737 cases,
721 controls |
1,030 cases,
1,195 controls |
7q36.2 15q22.1 2p24.2 |
DPP6 LIPC Intergenic |
rs10260404-C rs3825776-? rs7580332-? |
0.35 0.29 0.45 |
5 x 10-8 9 x 10-6 9 x 10-6 |
1.3 [1.18-1.43] 1.34 [1.20-1.46] 1.22 [1.09-1.35] |
Illumina
[311,946] |
N |
11/25/08 |
Cronin December 07, 2007 Hum Mol Genet A genome-wide association study of sporadic ALS in a homogenous Irish population
|
Amyotrophic lateral sclerosis |
221 cases,
211 controls |
737 cases,
721 controls |
7q36.2 |
DPP6 |
rs10260404-? |
0.37 |
3 x 10-6 |
1.37 [1.20-1.56] |
Illumina
[497,917] |
N |
11/25/08 |
Suzuki November 17, 2007 Pharmacogenet Genomics A novel genetic marker for coronary spasm in women from a genome-wide single nucleotide polymorphism analysis
|
Coronary spasm in women |
50 Japanese cases,
50 Japanese controls |
151 Japanese cases, 160 Japanese controls |
14q21.1 |
Intergenic |
rs10498345-T |
0.30 |
9 x 10-7 |
2.33 [1.64-3.23] |
Affymetrix
[97,552] |
N |
11/25/08 |
Li November 12, 2007 Arch Neurol Candidate single-nucleotide polymorphisms from a genomewide association study of Alzheimer disease
|
Alzheimer's disease |
753 cases,
736 controls |
418 cases,
249 controls |
19q13.32 |
APOE, APOC |
rs4420638-? |
NR |
2 x 10-44 |
NR |
Affymetrix
[469,438] |
N |
11/25/08 |
Li November 09, 2007 PLoS Genet The GLUT9 Gene Is Associated with Serum Uric Acid Levels in Sardinia and Chianti Cohorts
|
Serum urate |
4,305 Sardinian individuals |
1,301 Tuscan individuals |
4p16.1 |
GLUT9 |
rs6855911-A |
0.74 |
2 x 10-16 |
.32 [NR] mg/dl higher |
Affymetrix [362,129] |
N |
11/25/08 |
Plenge November 04, 2007 Nat Genet Two independent alleles at 6q23 associated with risk of rheumatoid arthritis
|
Rheumatoid arthritis |
397 cases,
1,211 Framingham individuals |
2,283 cases,
3,258 controls |
6q23.3 6q23.3 |
TNFAIP3, OLIG3 TNFAIP3, OLIG3 |
rs10499194-C rs6920220-? |
0.71 0.20 |
1 x 10-9 1 x 10-7 |
1.33 [1.15-1.52] 1.22 [NR] |
Affymetrix
[79,853] |
N |
11/25/08 |
Webster November 01, 2007 Neurodegener Dis Sorl1 as an Alzheimer's disease predisposition gene?
|
Alzheimer's disease |
664 cases,
422 controls |
NR |
19q13.32 |
APOE |
rs4420638-? |
NR |
1 x 10-39 |
NR |
Affymetrix
[~502,627] |
N |
11/25/08 |
Sulem October 21, 2007 Nat Genet Genetic determinants of hair, eye and skin pigmentation in Europeans
|
Blond vs. brown hair |
2,986 individuals |
3,932 individuals |
14q32.12 15q13.1 12q21.33 16q24.3 |
SLC24A4 OCA2 KITLG MC1R |
rs12896399-T rs1667394-A rs12821256-C rs1805007-T |
0.44 0.88 0.14 0.08 |
1 x 10-48 6 x 10-35 4 x 10-30 2 x 10-13 |
2.56 [2.12-3.09] 4.94 [3.16-7.71] 2.32 [1.86-2.92] 2.34 [1.69-3.24] |
Illumina
[317,511] |
N |
02/16/09 |
"
|
Blue vs brown eyes |
2,986 individuals |
3,932 individuals |
15q13.1 |
OCA2 |
rs1667394-A |
0.88 |
1 x 10-241 |
29.43 [21.47-40.35] |
Illumina
[317,511] |
N |
11/25/08 |
"
|
Blue vs. green eyes |
2,986 individuals |
3,932 individuals |
15q13.1 14q32.12 11q14.3 |
OCA2 SLC24A4 TYR |
rs1667394-A rs12896399-T rs1393350-A |
0.98 0.40 0.23 |
2 x 10-53 4 x 10-38 3 x 10-12 |
6.74 [4.61-9.83] 2.06 [1.76-2.42] 1.52 [1.28-1.81] |
Illumina
[317,511] |
N |
11/25/08 |
"
|
Freckles |
2,986 individuals |
3,932 individuals |
16q24.3 6p25.3 11q14.3 |
MC1R SEC5L1,IRF4 TYR |
rs1805007-T rs1540771-A rs1042602-C |
0.05 0.42 0.67 |
1 x 10-96 4 x 10-18 2 x 10-11 |
4.37 [3.56-5.37] 1.4 [1.26-1.57] 1.32 [1.17-1.49] |
Illumina
[317,511] |
N |
02/16/09 |
"
|
Red vs non-red hair |
2,986 individuals |
3,932 individuals |
16q24.3 |
MC1R |
rs1805007-T |
NR |
2 x 10-142 |
12.47 [9.37-16.60] |
Illumina
[317,511] |
N |
02/16/09 |
"
|
Skin sensitivity to sun |
2,986 individuals |
3,932 individuals |
16q24.3 11q14.3 |
MC1R TYR |
rs1805007-T rs1393350-A |
0.06 0.27 |
2 x 10-55 2 x 10-6 |
2.94 [2.42-3.58] 1.26 [1.11-1.43] |
Illumina
[317,511] |
N |
11/25/08 |
Stokowski October 15, 2007 Am J Hum Genet A genomewide association study of skin pigmentation in a South Asian population
|
Skin pigmentation by reflectance spectroscopy |
363 with maxL* < 56 and 374 with maxL* > 63; 20% tails of distribution |
116 low maxL*, 115 high maxL* individuals |
15q21.1 5p13.3 11q14.3 |
SLC24A5 SLC45A2 TYR |
rs1834640-G rs16891982-C rs1042602-C |
0.08 0.83 0.84 |
1 x 10-50 3 x 10-11 4 x 10-10 |
12.5 [8.33-20.0] 4.86 [2.88-8.21] 4.36 [2.64-7.20] |
Perlegen [1,502,205] (pooled) |
N |
11/25/08 |
Broderick October 14, 2007 Nat Genet A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk
|
Colorectal cancer |
940 cases,
965 controls |
7,473 cases,
5,984 controls |
18q21.1 |
SMAD7 |
rs4939827-T |
0.52 |
1 x 10-12 |
1.16 [1.09-1.27] |
Illumina
[547,647] |
N |
11/25/08 |
Cervino October 08, 2007 Ann NY Acad Sci A genome-wide study of lupus: preliminary analysis and data release
|
Lupus |
51 cases,
114 controls |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[241,701] |
N |
11/25/08 |
Benjamin September 19, 2007 BMC Med Genet Genome-wide association with select biomarker traits in the Framingham Heart Study
|
Select biomarker traits |
1,012 individuals
(Framingham) |
NR |
1q23.2 1q23.2 1q23.2 1p31.1
19q12 10q26.2 15q21.3 1q23.2 4q31.1 5q23.2 6q15 9q21.32 10q21.1 13q14.11 6q21 7p13 11q23.2 13q21.1 1q23.2 7p21.3 14q23.2 |
FCER1A,OR10J3 OR10J1 CRP Intergenic
ZNF536 PTPRE, MKI67 Intergenic IGSF4B CLGN, ELMOD2 Intergenic Intergenic Intergenic Intergenic Intergenic Intergenic Intergenic DRD2 Intergenic IGSF4B Intergenic Intergenic |
rs2494250-? rs4128725-? rs2794520-? rs7552393-?
rs746961-? rs2387326-? rs10518765-? rs10489849-? rs17532515-? rs1119582-? rs10485165-? rs1998303-? rs583012-? rs10492681-? rs1417352-? rs1486139-? rs1079596-? rs10507577-? rs1474747-? rs7778619-? rs8005745-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
1 x 10-14 (MCP1) 4 x 10-12 (MCP1) 3 x 10-8 (CRP average 2,6,7) 5 x 10-7 (TNFA)
8 x 10-7 (CRP6) 1 x 10-6 (VitKPhylloq) 1 x 10-6 (AlkPhos) 1 x 10-6 (MCP-1) 1 x 10-6 (Bilirubin) 1 x 10-6 (CRP average 2,6,7) 1 x 10-6 (VitD25OH) 1 x 10-6 (AA) 2 x 10-6 (CRP2) 2 x 10-6 (ALT2) 2 x 10-6 (ANP6) 2 x 10-6 (ANP6) 3 x 10-6 (ANP6) 3 x 10-6 (VitD25OH) 3 x 10-6 (MCP-1) 3 x 10-6 (CD40L) 4 x 10-6 (CD40L) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Fox September 19, 2007 BMC Med Genet Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project
|
Body mass index |
1,341 individuals
(Framingham) |
NR |
7q32.3 7q23.3 13q21.32 |
Intergenic Intergenic Intergenic |
rs1106683-? rs1106684-? rs1333026-? |
NR NR NR |
1 x 10-7 2 x 10-6 8 x 10-6 |
NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Waist circumference traits |
1,341 individuals
(Framingham) |
NR |
8q21.1 3q13.31 |
GDAP1 Intergenic |
rs4471028-? rs1875517-? |
NR NR |
2 x 10-7 2 x 10-6 |
NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Gottlieb September 19, 2007 BMC Med Genet Genome-wide association of sleep and circadian phenotypes
|
Sleep duration |
738 individuals
(Framingham) |
NR |
3p22.1
13q21.2 |
MYR1P
Intergenic |
rs6599077-?
rs10492604-? |
NR NR |
1 x 10-7
4 x 10-6 |
NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Sleepiness |
738 individuals
(Framingham) |
NR |
5q11.2
8q13.3 |
PDE4D
EYA1 |
rs1823068-?
rs2218488-? |
NR NR |
3 x 10-8 (sleepiness)
3 x 10-6 (sleepiness) |
NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Hwang September 19, 2007 BMC Med Genet A genome-wide association for kidney function and endocrine-related traits in the NHLBI's Framingham Heart Study
|
Cystatin C |
810-1,010 individuals
depending on measure
(Framingham) |
NR |
20p11.21 |
CST9L, CST9, CST3 |
rs1158167-? |
NR |
9 x 10-9 |
NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Thyroid stimulating hormone |
810-1,010 individuals
depending on measure
(Framingham) |
NR |
7p15.3
6q21
7p15.3 |
Intergenic
HACE1
RAPGEF5 |
rs6977660-?
rs9322817-?
rs10499559-? |
NR NR NR |
4 x 10-6
7 x 10-6
8 x 10-6 |
NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Urinary albumin excretion |
810-1,010 individuals
depending on measure
(Framingham |
NR |
11q23.2 21q21.3 |
FAM55B Intergenic |
rs1712790-? rs9305354-? |
NR NR |
2 x 10-6 8 x 10-6 |
NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Kathiresan September 19, 2007 BMC Med Genet A genome-wide association study for blood lipid phenotypes in the Framingham Heart Study
|
Blood lipid traits |
1,087 individuals
(Framingham) |
~8,100 individuals |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Kiel September 19, 2007 BMC Med Genet Genome-wide association with bone mass and geometry in the Framingham Heart Study
|
Bone mineral density |
1,141 individuals
(Framingham) |
NR |
13q21.31 16q23.3 10p15.2 12q21.1 20q11.23 4p16.1 3p24.1 7q35 |
Intergenic Intergenic Intergenic Intergenic CTNNBL1 Intergenic RBMS3 CNTNAP2 |
rs9317284-? rs4087296-? rs2165468-? rs10506701-? rs4811196-? rs9291683-? rs10510628-? rs2214681-? |
NR NR NR NR NR NR NR NR |
2 x 10-7 (FNBMDm) 3 x 10-7 (TRBMDf) 1 x 10-6 (FNBMDm) 1 x 10-6 (TRBMD) 1 x 10-6 (TRBMDf) 2 x 10-6 (BUA) 3 x 10-6 (TRBMDm) 3 x 10-6 (BUA) |
NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Hip geometry |
1,141 individuals
(Framingham) |
NR |
12q21.31
5p14.1
8p12 5q14.3 3q12.3 1p11.2 3p14.3 5q13.2 11q14.1 18q12.1 3p14.1 12p13.31 13q13.3 6p24.1 11q23.2 3p24.3 |
Intergenic
Intergenic
NRG1 GPR98 Intergenic Intergenic ERC2 ZNF366 Intergenic Intergenic Intergenic VAMP1 Intergenic PHACTR1 Intergenic KCNH8 |
rs10506821-?
rs2548003-?
rs10503887-? rs10514345-? rs991258-? rs6600671-? rs2054989-? rs10515148-? rs1452928-? rs4131805-? rs922948-? rs10492096-? rs1590305-? rs4715166-? rs638882-? rs2053506-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
2 x 10-7 (ShaftW1f)
2 x 10-7 (NeckZ1rf)
2 x 10-7 (ShaftZ1R) 2 x 10-7 (NeckZ1) 5 x 10-7 (ShaftW1) 6 x 10-7 (NeckZ1rf) 6 x 10-7 (NeckW1rf) 6 x 10-7 (NeckZ1rf) 7 x 10-7 (ShaftW1f) 2 x 10-6 (NSAm) 2 x 10-6 (ShaftW1f) 3 x 10-6 (ShaftZ1rf) 3 x 10-6 (NeckZ1rm) 3 x 10-6 (NeckW1rf) 4 x 10-6 (NeckZ1rf) 4 x 10-6 (NeckZ1) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Larson September 19, 2007 BMC Med Genet Framingham Heart Study 100K project: genome-wide associations for cardiovascular disease outcomes
|
Atrial fibrillation |
1,341-1,345 individuals, depending on measure
(Framingham) |
NR |
13q14 15q23
11q22.1 |
Intergenic KIAA1598
CNTN5 |
rs958546-? rs4776472-?
rs10501920-? |
NR NR NR |
5x10-6 8x10-6
9x10-6 |
NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Heart failure |
1,341-1,345 individuals, depending on measure
(Framingham |
NR |
10q25.3 |
KIAA1598 |
rs740363-? |
NR |
9 X 10-6 |
NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Major CVD |
1,341-1,345 individuals, depending on measure
(Framingham) |
NR |
6p24.1 |
Intergenic |
rs499818-? |
NR |
7x10-6 (major CVD) |
NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Levy September 19, 2007 BMC Med Genet Framingham Heart Study 100K Project: genome-wide associations for blood pressure and arterial stiffness
|
Blood pressure |
644-1,327 individuals, depending on measure
(Framingham) |
NR |
16q23.3 2q36.3 1p31.3
14q24.3
8q13.3 3p26.3 5q22.1 14q24.3 6q15 |
CDH13 CCL20, WDR69 Intergenic
Intergenic
Intergenic CNTN4 CAMK4 C14orf118 Intergenic |
rs3096277-? rs7591163-? rs10493340-?
rs935334-?
rs1963982-? rs4370013-? rs10491334-? rs2121070-? rs2509458-? |
NR NR NR NR NR NR NR NR NR |
1 x 10-9 (SBPLTA) 3 x 10-7 (DBPLTA) 2x10-6 (SBP)
3x10-6 (DBP)
3x10-6 (DBP) 4 x 10-6 (DBP) 4 x 10-6 (DBP) 5 x 10-6 (DBP) 7 x 10-6 (DBP) |
NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Tonometry |
644-1,327 individuals, depending on measure
(Framingham |
NR |
3p24.1 13q13.3 20q13.13 8p22 2q14.3 5q14.3 17p12 1q25.1 3q24 3p22.3 9q31.2 6q25.2 7q33 |
TGFBR2 GPC6 PREX1 VPS37A CNTNAP5 MEF2C HS3ST3A1 TNR SLC9A9 Intergenic Intergenic SYNE1 EXOC4 |
rs3773643-? rs6492654-? rs6063312-? rs3793427-? rs1367248-? rs770189-? rs10521232-? rs3766680-? rs1371924-? rs10514688-? rs7042864-? rs1322512-? rs10488172-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR |
2 x 10-7 (MAPLTA) 2 x 10-6 (RWLTA) 2 x 10-6 (RW) 2 x 10-6 (FWLTA) 3 x 10-6 (CF-PWVLTA) 3 x 10-6 (CB-PWV) 4 x 10-6 (CF-PWVLTA) 4 x 10-6 (FWLTA) 4 x 10-6 (RWLTA) 6 x 10-6 (CB-PWV) 6 x 10-6 (CB-PWV) 8 x 10-6 (MAP) 8 x 10-6 (RWLTA) |
NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Lunetta September 19, 2007 BMC Med Genet Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study
|
Aging traits |
1,345 individuals
(Framingham) |
NR |
2p12
12p11.22
11q14.3 2p12 12q24.23 2q24.1 7q21.11 1q42.3 15q25.3 3q25.31 |
Intergenic
Intergenic
Intergenic Intergenic CCDC60 GALNT13 Intergenic GNG4 KLHL25 KCNAB1 |
rs10496265-?
rs1463605-?
rs1528753-? rs10496262-? rs7137869-? rs958672-? rs2371208-? rs291353-? rs7176093-? rs3772255-? |
NR NR NR NR NR NR NR NR NR NR |
1 x 10-8 (age at natural menopause)
7 x 10-8 (biologic age)
8 x 10-8 (age at death) 3 x 10-7 (age at natural menopause) 6 x 10-7 (walking speed exam 7) 2 x 10-6 (age at natural menopause) 3 x 10-6 (age at death) 6 x 10-6 (age at natural menopause) 7 x 10-6 (biologic age) 8 x 10-6 (biologic age) |
NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Lunetta September 19, 2007 BMC Med Genet Genetic correlates of longevity and selected age-related phenotypes: a genome-wide association study in the Framingham Study.
|
Morbidity-free survival |
1,345 individuals
(Framingham) |
NR |
1q24.2 5p15.32 6p24.3 8p22 16q21 |
DPT Intergenic Intergenic Intergenic Intergenic |
rs1412337-? rs32566-? rs10484246-? rs4831837-? rs2639889-? |
NR NR NR NR NR |
2 x 10-9 2 x 10-9 8 x 10-8 5 x 10-7 9 x 10-7 |
NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Meigs September 19, 2007 BMC Med Genet Genome-wide association with diabetes-related traits in the Framingham Heart Study
|
Diabetes related insulin traits |
1,087 individuals
(Framingham) |
NR |
14q12
14q12 7p15.1 13q21.33 |
Intergenic
Intergenic CPVL Intergenic |
rs2877832-?
rs2877832-? rs10486607-? rs2066219-? |
NR NR NR NR |
2 x 10-6 (FI)
3 x 10-6 (HOMA-IR) 8 x 10-6 (HbA1C) 9 x 10-6 (ISI_0-120) |
NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Fasting plasma glucose |
1,087 individuals
(Framingham) |
NR |
8p11.21
3p24.1 4q27 4q27 5q23.3 8p11.21 |
ZMAT4
Intergenic PRDM5 PRDM5 Intergenic ZMAT4 |
rs2722425-?
rs10510634-? rs180730-? rs180730-? rs7731657-? rs2722425-? |
NR NR NR NR NR NR |
2 x 10-8 (tFPG)
5 x 10-6 (tFPG) 5 x 10-6 (FPG) 6 x 10-6 (tFPG) 7 x 10-6 (tFPG) 9 x 10-6 (FPG) |
NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Incident diabetes |
1,087 individuals
(Framingham) |
NR |
2q32.3 |
TMEFF2 |
rs10497721-? |
NR |
7 x 10-7 |
NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Murabito September 19, 2007 BMC Med Genet A genome-wide association study of breast and prostate cancer in the NHLBI's Framingham Heart Study
|
Breast cancer |
1,345 individuals
(Framingham) |
NR |
17q21.33
5q34
12q21.1 18q21.2
13q32.1 7q11.22 2p16.1 15q21.1 21q21.3 |
COL1A1
Intergenic
Intergenic Intergenic
ABCC4 Intergenic Intergenic FBN1 GRIK1 |
rs2075555-?
rs6556756-?
rs1154865-? rs1978503-?
rs1926657-? rs10263639-? rs10490113-? rs1876206-? rs458685-? |
NR NR NR NR NR NR NR NR NR |
8 x 10-8
5 x 10-7
7 x 10-7 1 x 10-6
2 x 10-6 3 x 10-6 5 x 10-6 6 x 10-6 6 x 10-6 |
NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Prostate cancer |
1,345 individuals
(Framingham) |
NR |
13q33.1 3p22.2
5q14.3
6p12.2
3q24 |
Intergenic CTDSPL
HAPLN1
PKHD1
Intergenic |
rs1529276-? rs9311171-?
rs4466137-?
rs10498792-?
rs345013-? |
NR NR NR NR NR |
2 x 10-6 2 x 10-6
3 x 10-6
3 x 10-6
5 x 10-6 |
NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Newton-Cheh September 19, 2007 BMC Med Genet Genome-wide association study of electrocardiographic and heart rate variability traits: the Framingham Heart Study
|
Electrocardiographic traits |
548-1,175 individuals, depending on measure
(Framingham) |
NR |
2q22.1 13q12.2 |
Intergenic RPL21 |
rs882300-? rs10507380-? |
NR NR |
3 x 10-7 (PR interval) 8 x 10-6 (QT interval) |
NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Heart rate variability traits |
548-1,175 individuals, depending on measure
(Framingham) |
NR |
4q34
13q13.3 |
NEIL3
DCAMKL1 |
rs1395479-?
rs9315385-? |
NR NR |
7x10-6 (LF/HF)
8x10-6 (TP) |
NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
O'Donnell September 19, 2007 BMC Med Genet Genome-wide association study for subclinical atherosclerosis in major arterial territories in the NHLBI's Framingham Heart Study
|
Coronary artery calcification |
673-984 individuals, depending on measure
(Framingham) |
NR |
1p22.2
14q24.2 12q23.2 |
Intergenic
NUMB DR1M |
rs2390582-?
rs10483853-? rs10507130-? |
NR NR NR |
1 x 10-6
6 x 10-6 7 x 10-6 |
NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Other subclinical atherosclerosis traits |
673-984 individuals, depending on measure
(Framingham |
NR |
2q33.2
10q11.22
5p15.2 1q31.1 5p15.2 4q28.1 11q14.3 5p15.2 |
ABI2
LRRC18
DNAH5 Intergenic DNAH5 Intergenic Intergenic DNAH5 |
rs1376877-?
rs3849150-?
rs2896103-? rs1400544-? rs7715811-? rs1320267-? rs1350445-? rs1502050-? |
NR NR NR NR NR NR NR NR |
4 x 10-7 (ICA IMT)
2 x 10-6 (AAC)
5 x 10-6 (ABI) 6 x 10-6 (CCA IMT) 6 x 10-6 (ABI) 7 x 10-6 (ABI) 9 x 10-6 (ABI) 9 x 10-6 (ABI) |
NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Seshadri September 19, 2007 BMC Med Genet Genetic correlates of brain aging on MRI and cognitive test measures: a genome-wide association and linkage analysis in the Framingham Study
|
Cognitive test performance |
705 individuals
(Framingham) |
NR |
1p22.2
21q21.3
4q13.2 14q24.3 6p23 12q23.3 5q32 11q14.1 17q22 11q25 1q42.2 12p11.1 9q22.2 2q22.1 |
Intergenic
Intergenic
Intergenic Intergenic Intergenic POLR3B, RFX4 Intergenic Intergenic PPM1E NCAPD3 TARBP1 Intergenic DIRAS2 Intergenic |
rs2179965-?
rs2832077-?
rs1155865-? rs2352904-? rs6914079-? rs3891355-? rs9325032-? rs530965-? rs9303401-? rs1031381-? rs10489896-? rs9300212-? rs1831521-? rs934299-? |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
1 x 10-6 (F3)
2 x 10-6 (F3)
2 x 10-6 (Nam) 2 x 10-6 (F2) 2 x 10-6 (F2) 3 x 10-6 (Sim) 3 x 10-6 (F2) 4 x 10-6 (Nam) 5 x 10-6 (NAM) 6 x 10-6 (F3) 6 x 10-6 (F2) 8 x 10-6 (WRAT) 8 x 10-6 (Nam) 9 x 10-6 (F3) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Volumetric brain MRI |
705 individuals
(Framingham) |
NR |
20q13.33 11p13 11q23.2 11q22.1 4q31.3 |
CDH4 EHF NNMT CNTN5 Intergenic |
rs1970546-? rs5028798-? rs2847476-? rs952700-? rs360929-? |
NR NR NR NR NR |
4 x 10-8 (ATCBV) 3 x 10-6 (ATBV) 3 x 10-6 (ALLV) 6 x 10-6 (AFBV) 9 x 10-6 (ALTHBV) |
NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Vasan September 19, 2007 BMC Med Genet Genome-wide association of echocardiographic dimensions, brachial artery endothelial function and treadmill exercise responses in the Framingham Heart Study
|
Echocardiographic traits |
1,238 individuals
(Framingham) |
NR |
4p15.31
6q15 4p15.31 8q13.3 1q31.1 2q36.1 1p31.3 5q14.3 |
SLIT2
SPACA1 SLIT2 KCNB2 FAM5C Intergenic PDE4B Intergenic |
rs1379659-?
rs366676-? rs666088-? rs10504543-? rs1935881-? rs10498091-? rs10493389-? rs4920799-? |
NR NR NR NR NR NR NR NR |
1 x 10-7 (LVD)
2 x 10-6 (LVFS) 5 x 10-6 (LVDD) 5 x 10-6 (LVSD) 6 x 10-6 (LAD) 6 x 10-6 (LVM) 7 x 10-6 (LAD) 7 x 10-6 (LVDD) |
NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Endothelial function traits |
1,238 individuals
(Framingham) |
NR |
10q24.33 |
OBFC1 |
rs3814219-? |
NR |
9 x 10-7 (BABF) |
NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Exercise treadmill test traits |
1,238 individuals
(Framingham) |
NR |
4q25
1q43 11q22.3 8p12 |
NOLA1
RYR2 Intergenic WRN |
rs6847149-?
rs2819770-? rs746463-? rs2553268-? |
NR NR NR NR |
3 x 10-6 (S2EHR)
4 x 10-6 (S2EHR) 5 x 10-6 (P3MRSBP) 6 x 10-6 (S2ESBP) |
NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Wilk September 19, 2007 BMC Med Genet Framingham Heart Study genome-wide association: results for pulmonary function measures
|
Mean forced vital capacity from 2 exams |
1,097-1,222 individuals,
depending on measure
(Framingham) |
NR |
7q21.3
4q25 |
COL1A2
Intergenic |
rs441051-?
rs10516541-? |
NR NR |
2 x 10-6 (meanfvc)
4 x 10-6 (meanfvc) |
NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Other pulmonary function traits |
1,097-1,222 individuals,
depending on measure
(Framingham) |
NR |
15q11.2
21q22.3
15q26.1 2q36.3 8q11.22 14q22.1 14q23.1 1q21.3 17p12 7q34 |
SNRPN
ADARB1
FLJ32831 RHBDD1 SNTG1 NID2 Intergenic IL6R CDRT4 Intergenic |
rs3867498-?
rs2838815-?
rs1455782-? rs3820928-? rs310558-? rs730532-? rs808225-? rs4129267-? rs2906966-? rs357394-? |
NR NR NR NR NR NR NR NR NR NR |
1 x 10-6 (fev1slope)
3 x 10-6 (meanratio)
4 x 10-6 (ppfvc) 5 x 10-6 (ppfev1) 5 x 10-6 (ppratio) 6 x 10-6 (ppfef) 7 x 10-6 (ppfefrat) 7 x 10-6 (ppfef) 8 x 10-6 (ppfev1) 9 x 10-6 (ppfvc) |
NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Yang September 19, 2007 BMC Med Genet Genome-wide association and linkage analyses of hemostatic factors and hematological phenotypes in the Framingham Heart Study
|
Factor VII |
1,000 individuals
(Framingham) |
NR |
13q34 7p22.2 1p36.32 3p26.1 |
MCF2L, AB116074, AK092739, AK123267, AB0023600, F7, CR603372, F10, PROZ Intergenic Intergenic Intergenic |
rs561241-? rs10488360-? rs966321-? rs4591494-? |
0.12 0.30 0.47 0.19 |
5 x 10-16 7 x 10-6 8 x 10-6 9 x 10-6 |
NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
"
|
Hemostatic factors and hematological phenotypes |
1,000 individuals
(Framingham |
NR |
11q11 14q21.3 1q23.2 2p16.2 1p31.1 8q24.13 5q21.3 11q24.1 1p34.3 12q14.2 4p15.33 10p11.21 14q32.2 20p12.3 2p16.2 5q21.1 6q25.1 6q25.1 |
OR5AP2, OR5AR1, OR9G1, OR9G4 MAMDC1 OR10J1,OR10J5 Intergenic NEGR1 Intergenic Intergenic Intergenic FLJ11730, BC016328 Intergenic Intergenic ANKRD30A Intergenic Intergenic Intergenic Intergenic Intergenic MAP3K7IP2 |
rs1397048-? rs7159841-? rs4133289-? rs1160297-? rs10493485-? rs7844723-? rs4460176-? rs565229-? rs9253-? rs10506458-? rs10489087-? rs1200821-? rs10484128-? rs6108011-? rs2357013-? rs1829883-? rs636864-? rs727979-? |
0.4 0.21 0.19 0.43 0.29 0.45 0.29 0.10 0.18 0.13 0.13 0.47 0.15 0.28 0.45 0.41 0.21 0.14 |
7 x 10-8 (MCH) 2 x 10-7 (Viscosity) 2 x 10-7 (Hgb) 1 x 10-6 (Hgb) 2 x 10-6 (tPA) 2 x 10-6 (Hgb) 3 x 10-6 (PAI-1) 4 x 10-6 (pltcoll) 4 x 10-6 (RBCC) 5 x 10-6 (pltcoll) 5 x 10-6 (RBCC) 6 x 10-6 (MCH) 6 x 10-6 (pltadp) 6 x 10-6 (RBCC) 6 x 10-6 (Hgb) 6 x 10-6 (MCH) 6 x 10-6 (RBCC) 8 x 10-6 (RBCC) |
NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR NR |
Affymetrix
[70,897] |
N |
11/25/08 |
Florez September 10, 2007 Diabetes A 100K genome-wide association scan for diabetes and related traits in the Framingham Heart Study: replication and integration with other genome-wide datasets
|
Type 2 diabetes and 6 quantitative traits |
1,087 family members |
1,465 unrelated individuals; 2,175 cases and 2,412 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[66,543] |
N |
11/25/08 |
Hanson September 10, 2007 Diabetes A search for variants associated with young-onset type 2 diabetes in American Indians in a 100K genotyping array
|
Type 2 diabetes |
300 cases,
334 controls,
121 nondiabetic siblings, 140 diabetic siblings |
1,207 cases,
1,627 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[80,044] |
N |
11/25/08 |
Hayes September 10, 2007 Diabetes Identification of type 2 diabetes genes in Mexican Americans through genome-wide association studies
|
Type 2 diabetes |
281 cases,
280 controls |
~1,979 cases,
~3,092 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[88,142] |
N |
11/25/08 |
Rampersaud September 10, 2007 Diabetes Identification of novel candidate genes for type 2 diabetes from a genome-wide association scan in the Old Order Amish: evidence for replication from diabetes-related quantitative traits and from independent populations
|
Type 2 diabetes |
124 cases,
295 controls |
2,142 cases,
2,117 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[82,485] |
N |
11/25/08 |
van Es September 07, 2007 Lancet Neurol ITPR2 as a susceptibility gene in sporadic amyotrophic lateral sclerosis: a genome-wide association study
|
Amyotrophic lateral sclerosis |
737 cases,
721 controls |
1,030 cases,
1,195 controls |
12p11 |
ITPR2 |
rs2306677-? |
0.07 |
3 x 10-6 |
1.58 [1.30-1.91] |
Illumina
[311,946] |
N |
11/25/08 |
Plenge September 05, 2007 N Engl J Med TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study
|
Rheumatoid arthritis |
1,493 cases,
1,831 controls |
1,053 cases,
1,858 controls |
6p21.32 9q34 1p13.2 |
HLA-DRB1 TRAF1-C5 PTPN22 |
rs660895-? rs3761847-G rs2476601-? |
0.21 0.41 0.10 |
1 x 10-108 4 x 10-14 2 x 10-11 |
3.62 [NR] 1.32 [1.23-1.42] 1.72 [NR] |
Illumina [297,086] |
N |
11/25/08 |
Raelson September 05, 2007 Proc Natl Acad Sci USA Genome-wide association study for Crohn's disease in the Quebec Founder Population identifies multiple validated disease loci
|
Crohn's disease |
382 trios |
750 cases,
828 controls,
521 trios |
16q12.1 1p31.3 1p31.3 |
NOD2 IL23R IL23R |
rs5743289-? 17 marker haplotype-1 17 marker haplotype-2 |
NR 0.23 0.97 |
6 x 10-17 1 x 10-8 2 x 10-7 |
NR 1.38 [1.23-1.53] 2.56 [1.75-3.70] |
Perlegen [164,279] |
N |
11/25/08 |
Menzel September 02, 2007 Nat Genet A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15
|
F-cell distribution |
179 adults in upper and lower 5% |
90 adults |
11p15.5
6q23.3 2p15.1 |
HBB
Intergenic BCL11A |
NR
rs9399137-? rs1427407-? |
0.33
0.23 0.14 |
2 x 10-38
3 x 10-36 6 x 10-31 |
10.2 [NR] % of variance explained 15.8 [NR] % of variance explained 13.1 [NR] % of variance explained |
Illumina
[308,015] |
N |
11/25/08 |
Weedon September 02, 2007 Nat Genet A common variant of HMGA2 is associated with adult and childhood height in the general population
|
Height |
4,921 individuals |
29,098 individuals (19,064 adults) |
12q14.3 |
HMGA2 |
rs1042725-C |
0.51 |
6 x 10-16 |
.4 [NR] cm per copy in adult height |
Affymetrix [364,301] |
N |
11/25/08 |
Thorleifsson August 09, 2007 Science Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
|
Exfoliation glaucoma |
75 cases,
14,474 controls |
254 cases,
198 controls |
15q24.1 |
LOXL1 |
rs3825942-G |
0.85 |
3 x 10-21 |
20.1 [10.80-37.41] |
Illumina
[304,250] |
N |
11/25/08 |
Franke August 08, 2007 PLoS ONE Systematic association mapping identifies NELL1 as a novel IBD disease gene
|
Inflammatory bowel syndrome |
393 cases,
399 controls |
1,248 trios, 2,920 cases, 1,961 controls |
16q12.1 5p13.1 11p15.1 |
CARD15 PTGER4 NELL1 |
rs2076756-? rs1992660-? rs1793004-? |
0.27 0.39 0.27 |
1 x 10-21 4 x 10-7 3 x 10-6 |
1.71 [1.42-2.05] 1.42 [1.24-1.67] 1.3 [1.12-1.52] |
Affymetrix
[92,387] |
N |
11/25/08 |
Dunckley August 01, 2007 N Engl J Med Whole-genome analysis of sporadic amyotrophic lateral sclerosis
|
Amyotrophic lateral sclerosis |
386 cases,
542 controls |
901 cases,
1,025 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix and
Illumina
[776,955] |
N |
11/25/08 |
Maeda August 01, 2007 Kidney Int Suppl Genetic variations associated with diabetic nephropathy and type II diabetes in a Japanese population
|
Diabetic nephropathy |
94 cases,
94 controls |
NR |
7p14.2 |
ELMO1 |
rs741301-? |
NR |
8 x 10-6 |
2.67 [1.71-4.16] |
NR
[~80,000] |
N |
11/25/08 |
Shifman July 31, 2007 Mol Psychiatry A whole genome association study of neuroticism using DNA pooling
|
Neuroticism |
1,038 cases,
1,016 controls |
831 cases,
702 controls |
5q11.2 |
PDE4D |
rs702543-A |
0.55 |
2 x 10-6 |
1.27 [1.15-1.40] |
Affymetrix
[452,574] (pooled) |
N |
11/25/08 |
Hafler July 29, 2007 N Engl J Med Risk alleles for multiple sclerosis identified by a genomewide study
|
Multiple sclerosis |
931 trios, 2,431 controls |
609 trios, 2,322 cases, 2,987 controls |
6p21.32 10p15.1 5p13.2 16p13 1p22 9q33 |
HLA-DRA IL2RA IL7RA KIAA0350 RPL5 DBC1 |
rs3135388-A rs12722489-C rs6897932-C rs6498169-G rs6604026-C rs10984447-A |
0.23 0.85 0.75 0.37 0.29 0.77 |
9 x 10-81 3 x 10-8 3 x 10-7 4 x 10-6 8 x 10-6 8 x 10-6 |
1.99 [1.84-2.15] 1.25 [1.11-1.36] 1.18 [1.11-1.26] 1.14 [1.08-1.21] 1.15 [1.08-1.22] 1.17 [1.09-1.25] |
Affymetrix
[334,923] |
N |
11/25/08 |
Moffatt July 26, 2007 Nature Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
|
Asthma |
994 cases,
1,243 controls |
2,320 cases,
3,301 controls |
17q12 |
ORMDL3 |
rs7216389-T |
0.52 |
9 x 10-11 |
1.45 [1.17-1.81] |
Illumina
[307,328] |
N |
11/25/08 |
Scuteri July 20, 2007 PLoS Genet Genome-Wide Association Scan Shows Genetic Variants in the FTO Gene Are Associated with Obesity-Related Traits
|
Obesity-related traits |
4,741 individuals |
3,205 individuals |
16q12.2 16q12.2 16q12.2 |
FTO FTO FTO |
rs9930506-G rs9930506-G rs9930506-G |
0.54 0.54 0.54 |
3 x 10-8 (hip) 9 x 10-7 (BMI) 9 x 10-7 (weight) |
.16 [NR] SD lower (hip) .13 [NR] SD lower (BMI) .12 [NR] SD lower (weight) |
Affymetrix
[362,129] |
N |
11/25/08 |
Fellay July 19, 2007 Science A whole-genome association study of major determinants for host control of HIV-1
|
HIV1 viral setpoint |
486 patients |
140 patients |
NR |
NR |
NR |
NR |
NS |
NR |
Illumina
[535,101] |
N |
11/25/08 |
Stefansson July 19, 2007 N Engl J Med A genetic risk factor for periodic limb movements in sleep
|
Restless legs syndrome |
306 cases,
15,664 controls |
311 cases,
1,895 controls |
6p21.2 |
BTBD9 |
rs3923809-A |
0.66 |
1 x 10-17 |
1.9 [1.50-2.20] |
Illumina
[306,937] |
N |
11/25/08 |
Samani July 18, 2007 N Engl J Med Genomewide association analysis of coronary artery disease
|
Coronary disease |
1,926 cases,
2,938 controls |
875 cases,
1,644 controls |
9p21.3 1p13.3 6q25.1 10q11.21 15q22.33 2q36.3 1q41 |
Intergenic PSRC1 MTHFD1L CXCL12 SMAD3 pseudogene MIA3 |
rs1333049-C rs599839-A rs6922269-A rs501120-T rs17228212-C rs2943634-C rs17465637-C |
0.47 0.23 0.25 0.13 0.30 0.65 0.29 |
3 x 10-19 4 x 10-9 3 x 10-8 9 x 10-8 2 x 10-7 2 x 10-7 1 x 10-6 |
1.36 [1.27-1.46] 1.29 [1.18-1.40] 1.23 [1.15-1.33] 1.33 [1.20-1.48] 1.21 [1.13-1.30] 1.21 [1.13-1.30] 1.2 [1.12-1.30] |
Affymetrix [377,857] |
N |
11/25/08 |
Winkelmann July 18, 2007 Nat Genet Genome-wide association study of restless legs syndrome identifies common variants in three genomic regions
|
Restless legs syndrome |
401 cases,
1,644 controls |
1,158 cases,
1,178 controls |
2p14 6p21.2 15q23 |
MEIS1 BTBD9 MAP2K5, LBXCOR1 |
rs2300478-G rs9296249-T rs12593813-G |
0.24 0.76 0.67 |
3 x 10-28 4 x 10-18 1 x 10-15 |
1.74 [1.57-1.92] 1.67 [1.49-1.89] 1.5 [1.36-1.66] |
Affymetrix
[236,758] |
N |
11/25/08 |
Buch July 15, 2007 Nat Genet A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease
|
Gallstones |
280 cases,
360 controls |
2,000 cases,
1,202 controls |
2p21 |
ABCG8 |
rs11887534-C |
0.10 |
1 x 10-14 |
2.2 [1.80-2.60] |
Affymetrix
[382,492] |
N |
11/25/08 |
Hakonarson July 15, 2007 Nature A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
|
Type 1 diabetes |
467 trios, 561 cases,
1,143 controls |
2,350 individuals in 549 families; 390 trios |
6p21.32 16p13.13 11p15.5 1p13.2 |
HLA-E KIAA0350 INS PTPN22 |
rs2647044-A rs2903692-G rs1004446-C rs2476601-A |
0.13 0.62 0.65 0.09 |
1 x 10-16 7 x 10-11 4 x 10-9 1 x 10-7 |
8.3 [6.97-9.89] 1.54 [1.32-1.79] 1.61 [1.37-1.89] 1.8 [1.44-2.24] |
Illumina
[543,071] |
N |
11/25/08 |
Tomlinson July 08, 2007 Nat Genet A genome-wide association scan of tag SNPs identifies a susceptibility variant for colorectal cancer at 8q24.21
|
Colorectal cancer |
930 cases,
960 controls |
7,334 cases,
5,246 controls |
8q24.21 |
Intergenic |
rs6983267-G |
0.49 |
1 x 10-14 |
1.27 [1.16-1.39] |
Illumina
[547,647] |
N |
11/25/08 |
Zanke July 08, 2007 Nat Genet Genome-wide association scan identifies a colorectal cancer susceptibility locus on chromosome 8q24
|
Colorectal cancer |
1,257 cases,
1,336 controls |
6,223 cases,
6,443 controls |
8q24.21 |
ORF DQ515897 |
rs10505477-A |
0.50 |
3 x 10-11 |
1.17 [1.12-1.23] |
Illumina and Affymetrix
[99,632] |
N |
11/25/08 |
Gudbjartsson July 01, 2007 Nature Variants conferring risk of atrial fibrillation on chromosome 4q25
|
Atrial fibrillation/atrial flutter |
550 cases,
4,476 controls |
3,363 cases,
17,616 controls |
4q25 4q25 |
PITX2,ENPEP PITX2,ENPEP |
rs2200733-T rs10033464-T |
0.11 0.08 |
3 x 10-41 7 x 10-11 |
1.72 [1.59-1.86] 1.39 [1.26-1.53] |
Illumina
[316,515] |
N |
11/25/08 |
Gudmundsson July 01, 2007 Nat Genet Two variants on chromosome 17 confer prostate cancer risk, and the one in TCF2 protects against type 2 diabetes
|
Prostate cancer |
1,501 cases,
11,290 controls |
1,992 cases,
3,058 controls |
17q12 17q24.3 |
TCF2 Intergenic |
rs4430796-A rs1859962-G |
0.49 0.46 |
1 x 10-11 3 x 10-10 |
1.22 [1.15-1.30] 1.2 [1.14-1.27] |
Illumina
[310,520] |
N |
11/25/08 |
Salonen June 26, 2007 Am J Hum Genet Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium
|
Type 2 diabetes |
500 cases,
497 controls |
2,573 cases,
2,776 controls |
10q25.2 2q12.1 |
TCF7L2 Intergenic |
rs7903146-A rs6712932-? |
NR NR |
5 x 10-8 6 x 10-6 |
1.71 [1.41-2.08] 1.52 [1.27-1.82] |
Illumina
[315,917] |
N |
11/25/08 |
van Heel June 10, 2007 Nat Genet A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21
|
Celiac disease |
778 cases,
1,422 controls |
991 cases,
1,489 controls |
6p21.32 4q27 |
HLA-DQA1 KIAA1109,TENR,IL2,IL21 |
rs2187668-A rs6822844-G |
0.14 0.82 |
1 x 10-19 1 x 10-14 |
7.04 [6.08-8.15] 1.59 [1.41-1.75] |
Illumina
[310,605] |
N |
11/25/08 |
Reiman June 07, 2007 Neuron GAB2 alleles modify Alzheimer's risk in APOE epsilon4 carriers
|
APOE*e4 carriers with late onset Alzheimer's disease |
446 cases,
290 controls |
415 cases,
260 controls |
11q14.1 |
GAB2 |
rs2373115-G |
0.70 |
1 x 10-10 |
4.06 [2.81-14.69] |
Affymetrix
[312,316] |
N |
11/25/08 |
WTCCC June 07, 2007 Nature Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
|
Bipolar disorder |
1,868 cases,
2,938 controls |
NR |
16p12.1 6p21 3q27 14q23.1 20p13 2q37 14q32.33 |
PALB2,NDUFAB1,DCTN5 NR NR NR NR NR NR |
rs420259-A rs6458307-? rs683395-G rs10134944-T rs3761218-C rs2953145-C rs11622475-C |
0.72 0.69 0.08 0.09 0.64 0.23 0.30 |
6 x 10-8 4 x 10-6 5 x 10-6 7 x 10-6 7 x 10-6 7 x 10-6 8 x 10-6 |
2.08 [1.60-2.71] 1.19 [1.04-1.33] 1.47 [1.26-1.71] 1.45 [1.24-1.68] 1.03 [1.15-1.23] 1.84 [1.31-2.58] 1.13 [0.89-1.44] |
Affymetrix [469,557] |
N |
11/25/08 |
"
|
Coronary disease |
1,926 cases,
2,938 controls |
(see Samani 2007) |
9p21.3 1q43 22q12 16q23 |
CDKN2A,CDKN2B NR NR NR |
rs1333049-C rs17672135-C rs688034-T rs8055236-G |
0.47 0.87 0.31 0.20 |
1 x 10-13 2 x 10-6 4 x 10-6 6 x 10-6 |
1.47 [1.27-1.70] 1.43 [1.23-1.64] 1.11 [0.99-1.25] 1.91 [1.33-2.74] |
Affymetrix
[469,557] |
N |
11/25/08 |
"
|
Crohn's disease |
1,748 cases,
2,938 controls |
(see Parkes 2007) |
2q37.1 5p13.1 1p31.3 16q12.1 3p21.31 10q24.2 18p11.21 5q33.1 10q21.2 6p21 5q31.1 7q36.1 10p15.1 |
ATG16L1 Intergenic IL23R NOD2 BSN, MST1 NKX2-3 PTPN2 IRGM Intergenic NR Intergenic NR NR |
rs10210302-T rs17234657-G rs11805303-T rs17221417-G rs9858542-A rs10883365-G rs2542151-G rs1000113-T rs10761659-G rs9469220-A rs6596075-C rs7807268-G rs6601764-C |
0.48 0.13 0.68 0.29 0.28 0.48 0.16 0.07 0.46 0.48 0.17 0.46 0.41 |
5 x 10-14 2 x 10-12 6 x 10-12 4 x 10-11 4 x 10-8 6 x 10-8 2 x 10-7 3 x 10-7 2 x 10-6 2 x 10-6 3 x 10-6 4 x 10-6 9 x 10-6 |
1.19 [1.01-1.41] 1.54 [1.34-1.76] 1.39 [1.22-1.58] 1.29 [1.13-1.46] 1.09 [0.96-1.24] 1.2 [1.03-1.39] 1.3 [1.14-1.48] 1.54 [1.31-1.82] 1.23 [1.05-1.45] 1.14 [0.98-1.32] 1.55 [1.00-2.39] 1.38 [1.20-1.60] 1.16 [1.01-1.33] |
Affymetrix
[469,557] |
N |
11/25/08 |
"
|
Hypertension |
1,952 cases,
2,938 controls |
NR |
1q43 15q26 |
RYR2,CHRM3,ZP4 NR |
rs2820037-T rs2398162-A |
0.14 0.26 |
8 x 10-7 6 x 10-6 |
1.54 [1.03-2.31] 1.31 [1.03-1.67] |
Affymetrix
[469,557] |
N |
11/25/08 |
"
|
Rheumatoid arthritis |
1,860 cases,
2,938 controls |
NR |
6p21.32 6p21.32 1p13.2 7q32.3 22q13 21q22 4p15.2 |
MHC HLA-DRB1 PTPN22 Intergenic NR NR NR |
rs6457617-T rs615672-? rs6679677-A rs11761231-C rs743777-G rs2837960-G rs3816587-C |
0.49 NR 0.10 0.62 0.29 0.17 0.41 |
5 x 10-75 8 x 10-27 6 x 10-25 4 x 10-7 (sex-differentiated) 1 x 10-6 2 x 10-6 9 x 10-6 |
2.36 [1.97-2.84] NR 1.98 [1.72-2.27] 1.32 [NR] (women) 1.09 [0.97-1.24] 1.05 [0.93-1.20] 1.09 [0.96-1.25] |
Affymetrix
[469,557] |
N |
11/25/08 |
"
|
Type 1 diabetes |
1,963 cases,
2,938 controls |
(see Todd 2007) |
6p21.32 1p13.2 12q24.13 12q13.2 12p13.31 16p13.13 12p13 4q27 4q27 5q31.1 |
MHC PTPN22 SH2B3,LNK,TRAFD1,PTPN1 ERBB3 NR KIAA0350 NR NR NR NR |
rs9272346-G rs6679677-A rs17696736-G rs11171739-C rs3764021-C rs12708716-A rs11052552-G rs6534347-A rs17388568-A rs17166496-G |
0.61 0.10 0.42 0.42 0.47 0.65 0.49 0.35 0.26 0.61 |
5 x 10-134 5 x 10-26 2 x 10-14 1 x 10-11 5 x 10-8 5 x 10-7 7 x 10-7 2 x 10-6 3 x 10-6 5 x 10-6 |
5.49 [4.83-6.24] 1.82 [1.59-2.09] 1.34 [1.16-1.53] 1.34 [1.17-1.54] 1.57 [1.38-1.79] 1.19 [0.97-1.45] 1.49 [1.28-1.73] 1.3 [1.10-1.55] 1.26 [1.11-1.42] 1.3 [1.15-1.47] |
Affymetrix
[469,557] |
N |
11/25/08 |
"
|
Type 2 diabetes |
1,924 cases,
2,938 controls |
(see Zeggini 2007) |
10q25.2 16q12.2 6p22.3 3p14 12q13 12q15 4q27 |
TCF7L2 FTO CDKAL1 NR NR NR NR |
rs4506565-T rs9939609-A rs9465871-C rs358806-? rs12304921-G rs1495377-G rs7659604-T |
0.32 0.40 0.18 0.80 0.15 0.50 0.38 |
5 x 10-12 2 x 10-7 3 x 10-7 3 x 10-6 7 x 10-6 7 x 10-6 9 x 10-6 |
1.36 [1.20-1.54] 1.34 [1.17-1.52] 1.18 [1.04-1.34] 1.16 [1.03-1.33] 2.5 [1.53-4.09] 1.28 [1.11-1.49] 1.35 [1.19-1.54] |
Affymetrix
[469,557] |
N |
11/25/08 |
Parkes June 06, 2007 Nat Genet Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility
|
Crohn's disease |
1,748 cases,
2,938 controls |
1,182 cases,
2,024 controls |
5p13.1 5q33.1 10q24.2 18p11.21 1q31.2 3p21.31 1q24.3 21q22.2 5q33.3 |
Intergenic IRGM NKX2-3 PTPN2 Intergenic MST1 Intergenic Intergenic IL12B |
rs9292777-? rs13361189-? rs10883365-? rs2542151-? rs10801047-? rs9858542-? rs12035082-? rs2836754-? rs6887695-? |
0.40 0.08 0.48 0.18 0.08 0.29 0.40 0.35 0.32 |
3 x 10-18 2 x 10-10 4 x 10-10 3 x 10-8 3 x 10-8 5 x 10-8 2 x 10-7 5 x 10-7 9 x 10-6 |
1.34 [1.20-1.50] 1.38 [1.15-1.66] 1.18 [1.05-1.32] 1.15 [1.00-1.32] 1.47 [1.22-1.76] 1.17 [1.14-1.31] 1.14 [1.02-1.27] 1.15 [1.03-1.28] 1.26 [1.12-1.41] |
see WTCCC |
N |
11/25/08 |
Todd June 06, 2007 Nat Genet Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes
|
Type 1 diabetes |
1,963 cases,
2,938 controls |
2997 trios, 4,000 cases, 5,000 controls |
1p13.2 1p13.2 12q13.2 16p13.13 12q24.13 18p11.21 2q24.2 18q22.2 11p15.5 2p11.2 5p13.2 5p13.2 |
PTPN22 PHTF1, PTPN22 ERBB3 KIAA0350 C12orf30 PTPN2 IFIH1 CD226 INS AFF3, LOC150577 CAPSL IL7R |
rs2476601-T rs6679677-A rs2292239-A rs12708716-A rs17696736-G rs2542151-C rs1990760-A rs763361-A rs3741208-T rs9653442-G rs1445898-G rs6897932-G |
0.09 0.10 0.34 0.68 0.42 0.16 0.60 0.47 0.38 0.46 0.55 0.71 |
2 x 10-80 8 x 10-24 2 x 10-20 3 x 10-18 2 x 10-16 1 x 10-14 2 x 10-11 1 x 10-8 2 x 10-7 5 x 10-6 8 x 10-6 8 x 10-6 |
1.98 [1.82-2.15] 1.89 [1.67-2.13] 1.28 [1.21-1.35] 1.23 [1.16-1.30] 1.22 [1.15-1.28] 1.3 [1.22-1.40] 1.18 [1.11-1.23] 1.16 [1.10-1.22] 1.25 [1.15-1.35] 1.11 [1.05-1.17] 1.12 [1.06-1.19] 1.12 [1.06-1.19] |
see WTCCC |
N |
11/25/08 |
Easton May 27, 2007 Nature Genome-wide association study identifies novel breast cancer susceptibility loci
|
Breast cancer |
390 cases,
364 controls |
26,646 cases,
24,889 controls |
10q26.13 16q12.1 5q11.2 8q24.21 11p15.5 5p12 |
FGFR2 TNCR9,LOC643714 MAP3K1 Intergenic LSP1 Intergenic |
rs2981582-G rs3803662-C rs889312-A rs13281615-T rs3817198-T rs981782-C |
0.38 0.25 0.28 0.40 0.30 0.53 |
2 x 10-76 1 x 10-36 7 x 10-20 5 x 10-12 3 x 10-9 9 x 10-6 |
1.26 [1.23-1.30] 1.2 [1.16-1.24] 1.13 [1.10-1.16] 1.08 [1.05-1.11] 1.07 [1.04-1.11] 1.04 [1.01-1.08] |
Perlegen
[205,586] |
N |
11/25/08 |
Hunter May 27, 2007 Nat Genet A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer
|
Breast cancer |
1,145 cases,
1,142 controls |
1,176 cases,
2,072 controls |
10q26.13 |
FGFR2 |
rs1219648-G |
0.40 |
1 x 10-10 |
1.2 [1.07-1.42] |
Illumina
[528,173] |
N |
11/25/08 |
Stacey May 27, 2007 Nat Genet Common variants on chromosomes 2q35 and 16q12 confer susceptibility to estrogen receptor-positive breast cancer
|
Breast cancer |
1,599 cases,
11,546 controls |
2,934 cases,
5,967 controls |
16q12.1 2q35 |
TNRC9 Intergenic |
rs3803662-T rs13387042-A |
0.27 0.50 |
6 x 10-19 1 x 10-13 |
1.28 [1.21-1.35] 1.2 [1.14-1.26] |
Illumina
[311,524] |
N |
11/25/08 |
Kindmark May 15, 2007 Pharmacogenomics J Genome-wide pharmacogenetic investigation of a hepatic adverse event without clinical signs of immunopathology suggests an underlying immune pathogenesis
|
Response to ximelagatran treatment |
74 cases,
130 controls |
10 cases,
16 controls |
6p21.3 |
HLA-DRB1 |
DRB1*07 |
NR |
9 x 10-6 |
4.41 [2.20-8.87] |
Perlegen
[~266,722] |
N |
11/25/08 |
Baum May 08, 2007 Mol Psychiatry A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder
|
Bipolar disorder |
461 cases,
563 controls |
772 cases,
876 controls |
13q14.11 |
DGKH |
rs1012053-A |
0.84 |
2 x 10-8 |
1.59 [1.35-1.87] |
Illumina
[555,235]
(pooled) |
N |
11/25/08 |
Matarin May 06, 2007 Lancet Neurol A genome-wide genotyping study in patients with ischaemic stroke: initial analysis and data release
|
Stroke |
259 cases,
269 controls |
NR |
18p11.2 13q21.1 7p21 6q21 |
IMPA2 Intergenic Intergenic AIM1 |
rs7506045-? rs9536591-? rs10486776-? rs783396-? |
0.10 0.10 0.10 0.90 |
7 x 10-7 6 x 10-6 6 x 10-6 9 x 10-6 |
5.39 [2.77-10.5] 1.92 [1.41-2.63] 5.62 [2.66-11.9] 2.17 [1.47-3.13] |
Illumina
[408,803] |
N |
11/25/08 |
Helgadottir May 03, 2007 Science A common variant on chromosome 9p21 affects the risk of myocardial infarction
|
Myocardial infarction |
1,607 cases,
6,728 controls |
2,980 cases,
6,309 controls |
9p21.3 |
CDKN2A,CDKN2B |
rs10757278-G |
0.45 |
1 x 10-20 |
1.28 [1.22-1.35] |
Illumina
[305,953] |
N |
11/25/08 |
McPherson May 03, 2007 Science A common allele on chromosome 9 associated with coronary heart disease
|
Coronary disease |
322 cases,
312 controls |
3,984 cases,
19,807 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Perlegen
[72,864] |
N |
11/25/08 |
Huentelman April 30, 2007 Hum Mol Genet Calmodulin-binding transcription activator 1 (CAMTA1) alleles predispose human episodic memory performance
|
Episodic memory |
341 young adults |
472 young adults |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[~502,627]
(pooled) |
N |
02/13/09 |
Saxena April 26, 2007 Science Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
|
Triglycerides |
up to 5,217 individuals |
NR |
16q13 19q13.32 8p21.3 2p24.1 16q13 |
CETP APOE cluster LPL APOB CETP |
rs1800775-C rs4420638-G rs328-T rs693-A rs1800775-C |
0.47 0.22 0.10 0.49 0.44 |
3 x 10-13 (HDL) 3 x 10-13 (LDL) 5 x 10-7 (TG) 7 X 10-7 (LDL) 3 x 10-6 (apoA-1) |
2.1 % [NR] of variance explained 2.4 % [NR] of variance explained 1 % [NR] of variance explained NR 1.6 % [NR] of variance explained |
Affymetrix
[386,731] |
N |
11/25/08 |
"
|
Type 2 diabetes |
1,464 cases,
1,467 controls |
5,065 cases,
5,785 controls |
10q25.2 3q27.2 9p21.3 6p22.3 11p15.1 10q23.33 8q24.11 3p25.2 |
TCF7L2 IGF2BP2 CDKN2A,CDKN2B CDKAL1 KCNJ11 HHEX SLC30A8 PPARG |
rs7903146-T rs4402960-T rs10811661-T rs7754840-C rs5219-T rs1111875-C rs13266634-C rs1801282-C |
0.26 0.29 0.83 0.31 0.47 0.53 0.65 0.86 |
1 x 10-48 9 x 10-16 8 x 10-15 4 x 10-11 7 x 10-11 6 x 10-10 5 x 10-8 2 x 10-6 |
1.37 [1.31-1.43] 1.14 [1.11-1.18] 1.2 [1.14-1.25] 1.12 [1.08-1.16] 1.14 [1.10-1.19] 1.13 [1.08-1.17] 1.12 [1.07-1.16] 1.14 [1.08-1.20] |
Affymetrix
[386,731] |
N |
11/25/08 |
Scott April 26, 2007 Science A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
|
Type 2 diabetes |
1,161 cases,
1,174 controls |
1,215 cases,
1,258 controls |
10q25.2 3q27.2 9p21.3 6p22.3 11p15.1 10q23.33 8q24.11 11p12 3p25.2 |
TCF7L2 IGF2BP2 CDKN2A, CDKN2B CDKAL1 KCNJ11 HHEX SLC30A8 Intergenic PPARG |
rs7903146-T rs4402960-T rs10811661-T rs7754840-C rs5219-T rs1111875-C rs13266634-C rs9300039-C rs1801282-C |
0.18 0.30 0.85 0.36 0.46 0.52 0.61 0.89 0.82 |
1 x 10-48 9 x 10-16 8 x 10-15 4 x 10-11 7 x 10-11 6 x 10-10 5 x 10-8 4 x 10-7 2 x 10-6 |
1.37 [1.31-1.43] 1.14 [1.11-1.18] 1.2 [1.14-1.25] 1.12 [1.08-1.16] 1.14 [1.10-1.19] 1.13 [1.09-1.17] 1.12 [1.07-1.16] 1.25 [1.15-1.37] 1.14 [1.08-1.20] |
Illumina
[315,635] |
N |
11/25/08 |
Steinthorsdottir April 26, 2007 Nat Genet A variant in CDKAL1 influences insulin response and risk of type 2 diabetes
|
Type 2 diabetes |
1,399 EA cases,
5,275 EA controls |
2,437 EA cases,
7,287 EA controls |
10q25.2 6p22.3 8q24.11 |
TCF7L2 CDKAL1 SLC30A8 |
rs7903146-? rs7756992-G rs13266634-C |
0.30 0.26 0.67 |
2 x 10-10 8 x 10-9 3 x 10-6 |
1.38 [NR] 1.2 [1.13-1.27] 1.15 [1.08-1.22] |
Illumina
[313,179 SNPs; 339,846 2-SNP haplotypes] |
N |
11/25/08 |
Zeggini April 26, 2007 Science Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
|
Type 2 diabetes |
1,924 cases,
2,938 controls |
3,757 cases,
5,346 controls |
10q25.2 3q27.2 9p21.3 16q12.2 6p22.3 11p15.1 10q23.33 8q24.11 9p21.3 3p25.2 |
TCF7L2 IGF2BP2 CDKN2A,CDKN2B FTO CDKAL1 KCNJ11 HHEX SLC30A8 CDKN2B PPARG |
rs7901695-C rs4402960-T rs10811661-T rs8050136-A rs10946398-C rs5215-C rs5015480-C rs13266634-C rs564398-T rs1801282-C |
NR 0.32 0.83 0.40 0.32 NR 0.57 0.70 NR NR |
1 x 10-48 9 x 10-16 8 x 10-15 1 x 10-12 4 x 10-11 5 x 10-11 6 x 10-10 5 x 10-8 1 x 10-7 2 x 10-6 |
1.37 [1.31-1.43] 1.14 [1.11-1.18] 1.2 [1.14-1.25] 1.17 [1.12-1.22] 1.12 [1.08-1.16] 1.14 [1.10-1.19] 1.13 [1.08-1.17] 1.12 [1.07-1.16] 1.12 [1.07-1.17] 1.14 [1.08-1.20] |
Affymetrix
[393,453] |
N |
11/25/08 |
Rioux April 15, 2007 Nat Genet Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis
|
Crohn's disease |
946 cases,
977 controls |
530 trios,
353 cases,
207 controls |
16q12.1 2q37.1 1p31.3 10q21.2 |
CARD15 ATG16L1 IL23R Intergenic |
rs2076756-? rs2241880-G rs7517847-? rs224136-? |
0.24 0.55 0.40 0.81 |
7 x 10-14 1 x 10-13 3 x 10-12 1 x 10-10 |
NR 1.45 [1.27-1.64] NR 1.67 [NR] |
Illumina
[304,413] |
N |
11/25/08 |
Frayling April 12, 2007 Science A common variant in the FTO gene is associated with body mass index and predisposes to childhood and adult obesity
|
Body mass index |
10,657 adults |
19,424 adults,
10,172 children |
16q12.2 |
FTO |
rs9939609-A |
0.39 |
2 x 10-20 |
.36 [NR] kg/m2 per copy in adults
|
Affymetrix
[490,032] |
N |
11/25/08 |
Uhl April 03, 2007 BMC Genetics Molecular genetics of nicotine dependence and abstinence: whole genome association using 520,000 SNPs
|
Nicotine dependence |
134 cases,
320 controls |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[~520,000]
(pooled) |
N |
11/25/08 |
Coon April 01, 2007 J Clin Psychiatry A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease
|
Late onset Alzheimer's disease |
664 cases,
422 controls |
NR |
19q13.32 |
APOE |
rs4420638-? |
NR |
1 x 10-39 |
4.01 [NR] |
Affymetrix
[~502,627] |
N |
11/25/08 |
Gudmundsson April 01, 2007 Nat Genet Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
|
Prostate cancer |
1,453 cases,
3,064 controls |
1,210 EA cases, 2,445 EA controls; 373 AA cases, 372 AA controls |
8q24.21 8q24.21 8q24.21 |
Intergenic Intergenic Intergenic |
rs1447295-A HapC rs16901979-A |
0.09 0.02 (EA) 0.03 (EA) |
6 x 10-18 3 x 10-15 (EA) 1 x 10-12 (EA) |
1.6 [1.43-1.77] 2.1 [1.75-2.53] (EA) 1.79 [1.53-2.11] (EA) |
Illumina
[316,515] |
N |
11/25/08 |
Hanson April 01, 2007 Diabetes Identification of PVT1 as a candidate gene for end-stage renal disease in type 2 diabetes using a pooling-based genome-wide single nucleotide polymorphism association study
|
End-stage renal disease |
105 cases,
102 controls |
NR |
8q24.21 |
PVT1 |
rs2648875-A |
0.53 |
2 x 10-6 |
2.97 [1.90-4.65] |
Affymetrix
[115,352] |
N |
11/25/08 |
Yeager April 01, 2007 Nat Genet Genome-wide association study of prostate cancer identifies a second risk locus at 8q24
|
Prostate cancer |
1,172 cases,
1,157 controls |
3,124 cases,
3,142 controls |
8q24.21 8q24.21 |
Intergenic Intergenic |
rs1447295-A rs6983267-G |
0.11 0.50 |
2 x 10-14 9 x 10-13 |
1.43 [1.29-1.59] 1.26 [1.13-1.41] |
Illumina
[538,548] |
N |
11/25/08 |
Lencz March 20, 2007 Mol Psychiatry Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia
|
Schizophrenia |
178 cases,
144 controls |
NR |
Xp22.33,Yp11.32 |
CSF2RA,IL3RA |
rs4129148-C |
NR |
4 x 10-7 |
3.23 [2.04-5.15] |
Affymetrix
[439,511] |
N |
11/25/08 |
Melquist March 08, 2007 Am J Hum Genet Identification of a novel risk locus for progressive supranuclear palsy by a pooled genomewide scan of 500,288 single-nucleotide polymorphisms
|
Progressive supranuclear palsy |
288 cases,
344 controls |
213 cases,
391 controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[428,867] |
N |
11/25/08 |
Libioulle March 05, 2007 PLoS Genet Novel Crohn disease locus identified by genome-wide association maps to a gene desert on 5p13.1 and modulates expression of PTGER4
|
Crohn's disease |
547 cases,
928 controls |
1,266 cases,
559 controls,
428 trios |
1p31.3 5p13.1 16q12.1 |
IL23R Intergenic CARD15 |
rs11209026-? rs1373692-? rs5743289-? |
0.92 0.59 NR |
2 x 10-18 2 x 10-12 1 x 10-6 |
2.92 [NR] 1.46 [NR] NR |
Illumina
[302,451] |
N |
11/25/08 |
Schymick February 20, 2007 Lancet Neurol Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data
|
Amyotrophic lateral sclerosis |
276 cases,
276 controls |
NR |
10q26.13 2p24 8q24.2 20q13.2 9q31.3 4q31.3 |
Intergenic Intergenic Intergenic ZFP64 SUSD1 KlAA1727 |
rs4363506-? rs16984239-? rs12680546-? rs6013382-? rs2782931-? rs11099864-? |
NR NR NR NR NR NR |
7 x 10-7 2 x 10-6 3 x 10-6 5 x 10-6 6 x 10-6 9 x 10-6 |
1.9 [1.50-2.40] 2.1 [1.50-3.00] 1.67 [1.25-2.00] 1.43 [1.11-1.67] 1.11 [0.91-1.43] 1 [0.80-1.40] |
Illumina
[549,062] |
N |
11/25/08 |
Sladek February 11, 2007 Nature A genome-wide association study identifies novel risk loci for type 2 diabetes
|
Type 2 diabetes |
1,380 cases,
1,323 controls |
2,617 cases,
2,894 controls |
10q25.3 8q24.11 10q23.33 |
TCF7L2 SLC30A8 HHEX |
rs7903146-T rs13266634-C rs1111875-G |
0.30 0.70 0.60 |
2 x 10-34 6 x 10-8 3 x 10-6 |
1.65 [1.28, 2.02] 1.18 [0.69-1.67] 1.19 [0.82-1.56] |
Illumina
[392,935] |
N |
11/25/08 |
Spinola January 16, 2007 Cancer Lett Genome-wide single nucleotide polymorphism analysis of lung cancer risk detects the KLF6 gene
|
Lung cancer |
338 Italian lung adenocarcinoma cases,
335 Italian controls |
265 Norwegian non-small lung carcinoma cases
356 Norwegian controls |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[~116,204] (pooled) |
N |
11/25/08 |
Bierut December 07, 2006 Hum Mol Genet Novel genes identified in a high-density genome wide association study for nicotine dependence
|
Nicotine dependence |
1,050 cases,
879 controls |
NR |
21q22.2 10q21.3 |
NR CTNNA3 |
rs2836823-T rs4142041-G |
0.40 0.34 |
2 x 10-6 6 x 10-6 |
1.46 [1.23-1.73] 1.14 [0.97-1.35] |
Perlegen
[2.4 million] (pooled) |
N |
11/25/08 |
Liu December 05, 2006 Am J Med Genet B Neuropsychiatr Genet Addiction molecular genetics: 639,401 SNP whole genome association identifies many "cell adhesion" genes
|
Addiction |
980 cases,
680 controls |
NR |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[639,401] |
N |
11/25/08 |
Duerr October 26, 2006 Science A genome-wide association study identifies IL23R as an inflammatory bowel disease gene
|
Inflammatory bowel disease |
547 cases,
548 controls |
401 cases,
433 controls,
883 families,
1,119 affected offspring |
1p31.3 1p31.3 16q12.1 |
IL23R IL23R CARD15 |
rs7517847-C rs11209026-A rs2076756-? |
0.56 0.93 NR |
4 x 10-13 4 x 10-11 5 x 10-10 |
1.61 [1.35-1.92] 3.84 [2.33-6.66] NR |
Illumina
[308,332] |
N |
11/25/08 |
Papassotiropoulos October 20, 2006 Science Common Kibra alleles are associated with human memory performance
|
Memory performance |
341 individuals |
680 individuals |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[178,390] |
N |
11/25/08 |
DeWan October 19, 2006 Science HTRA1 promoter polymorphism in wet age-related macular degeneration
|
Wet age-related macular degeneration |
96 Southeast Asian cases,
130 Southeast Asian controls |
NR |
10q26 |
HTRA1 |
rs11200638-A |
NR |
8 x 10-12 |
1.6 [0.71-3.61] |
Affymetrix
[97,824] |
N |
11/25/08 |
Fung September 28, 2006 Lancet Neurol Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data
|
Parkinson's disease |
267 cases,
270 controls |
NR |
10q11.21 4q13.2 11q14 |
Intergenic BRDG1 DLG2 |
rs1480597-? rs2242330-? rs10501570-? |
NR NR NR |
2 x 10-6 2 x 10-6 7 x 10-6 |
2.5 [1.67-3.33] 2 [1.43-2.50] 5 [2.00-12.50] |
Illumina
[408,803] |
N |
11/25/08 |
Arking April 30, 2006 Nat Genet A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization
|
QT interval prolongation |
100 > 445ms,
100 < 386ms |
200 > 85th pct,
200 < 15th pct,
7,817 cohort members |
1q23.3 |
NOS1AP |
rs10494366-? |
0.36 |
1 x 10-10 |
4.9 - 7.90 [NR] msec difference between homozygotes |
Affymetrix
[88,500] |
N |
11/25/08 |
Herbert April 14, 2006 Science A common genetic variant is associated with adult and childhood obesity
|
Obesity |
694 offspring |
3,489 cases,
6,392 controls,
361 trios |
NR |
NR |
NR |
NR |
NS |
NR |
Affymetrix
[86,604] |
N |
11/25/08 |
Maraganore September 09, 2005 Am J Hum Genet High-resolution whole-genome association study of Parkinson disease
|
Parkinson's disease |
443 sib pairs |
332 cases,
332 controls |
5p15.2 |
SEMA5A |
rs7702187-? |
NR |
8 x 10-6 |
1.74 [1.36-2.24] |
Perlegen [198,345] |
N |
11/25/08 |
Klein March 10, 2005 Science Complement factor H polymorphism in age-related macular degeneration
|
Age-related macular degeneration |
96 cases,
50 controls |
NR |
1q31 |
CFH |
rs380390-C |
0.70 (HapMap CEU) |
4 x 10-8 |
4.6 [2.0-11] |
Affymetrix
[103,611] |
N |