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 |
19p13.3 |
FUT2 |
rs492602-G |
0.49 |
5 x 10-17 |
0.09 [0.07-0.11] pg/ml decrease |
Illumina
[528,134] |
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 |
IRF4 GRAMD1B Intergenic ACOXL,BCL2L11 SP140, SP110 |
rs872071-G rs735665-A rs7176508-A rs17483466-G rs13397985-G |
0.54 0.21 0.37 0.20 0.19 |
2 x 10-20 4 x 10-12 5 x 10-12 2 x 10-10 6 x 10-10 |
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] |
Illumina
[345,665] |
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 |
TNFRSF6B PSMG1 |
rs2315008-G rs2836878-? |
0.69 0.72 |
9 x 10-15 4 x 10-12 |
1.36 [1.05-1.76] 1.41 [1.08-1.84] |
Affymetrix
[NR] |
Weidinger August 22, 2008 PLoS Genetics 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 |
19.20 % [NR] decrease 13.90 % [NR] increase |
Affymetrix
[353,569] |
Ferreira August 17, 2008 Nat Genet Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder
|
Bipolar disorder |
1,098 cases,
1,267 controls |
4,387 cases,
6,209 controls |
10q21.2 15q14 2q11.2 9q33.3 11q14.1 |
ANK3 C15orf53, RASGRP1 NR NR NR |
rs10994336-T rs12899449-? rs2314398-? rs4130590-? rs12290811-A |
0.05 0.72 0.69 0.56 0.15 |
9 x 10-9 4 x 10-7 3 x 10-6 3 x 10-6 4 x 10-6 |
1.45 [NR] 1.20 [NR] 1.17 [NR] 1.16 [NR] 1.20 [NR] |
Affymetrix
[1,769,948]
imputed |
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] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[375,771] |
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 |
6p23.3 10q11.22 17p12 4q28.3 2p16.3 |
TNFAIP3 c10orf64 Intergenic Intergenic Intergenic |
rs5029939-? rs11101442-? rs12949531-? rs2313132-? rs17039212-? |
0.03 0.32 0.22 0.12 0.10 |
3 x 10-12 3 x 10-6 8 x 10-6 8 x 10-6 9 x 10-6 |
2.28 [NR] NR NR NR NR |
Affymetrix
[313,238] |
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 |
18q23 |
SALL3 |
rs2002842-A |
0.49 |
6 x 10-6 |
1.61 [NR] |
Illumina
[299,918] |
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] |
Schormair July 27, 2008 Nat Genet PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome
|
Restless leg syndrome |
628 cases,
1,644 controls |
1,835 cases,
3,111 controls |
9p24.1 9p23 |
PTPRD PTPRD |
rs1975197-T rs4626664-A |
0.16 0.12 |
6 x 10-9 8 x 10-7 |
1.31 [1.20-1.44] 1.44 [1.31-1.59] |
Affymetrix
[208,733] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Illumina
[316,184] |
Franke July 21, 2008 Gastroenterology Genome-wide association study anaylsis in sarcoidosis and Crohn disease unravels a common susceptibility locus on 10p12.2
|
Sarcoidosis and Crohn disease |
382 CD cases,
398 SA cases,
394 controls |
660 CD cases,
657 SA cases,
1,091 controls |
10p12.2 |
C10ORF67 |
rs1398024-? |
NR |
4 x 10-6 |
1.23 [1.04-1.45] |
Affymetrix
[83,360] |
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 |
6q26 9p21.2 |
QKI IFNK |
rs10945919-G rs7046653-A |
0.32 0.26 |
3 x 10-7 5 x 10-7 |
NR NR |
Illumina
[283,348] |
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 |
ICAM1 ABO ICAM1 |
rs1799969-G rs507666-G rs5498-A |
0.12 0.20 0.43 |
4 x 10-47 5 x 10-29 5 x 10-25 |
28.19 [NR] umol/L decrease 17.73 [NR] umol/L decrease 13.22 [NR] umol/L increase |
Illumina
[336,108] |
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] |
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] |
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] |
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 |
2,325 cases
1,809 controls
1,339 affected trios |
13q14.11 5q33.3 6q27 17q21.2 6q21 |
Unknown IL12B CCR6 STAT3 Unknown |
rs3764147-G rs10045431-C rs2301436-T rs744166-A rs7746082-C |
0.22 0.71 0.46 0.57 0.29 |
2 x 10-13 4 x 10-13 1 x 10-12 7 x 10-12 2 x 10-10 |
1.25 [NR] 1.11 [NR] 1.21 [NR] 1.18 [NR] 1.17 [NR] |
Affymetrix and Illumina
[635,547]
(imputed) |
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] |
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 |
0.3 |
4 x 10-23 |
0.06 [0.05-0.08] mmol/l decrease |
Illumina
[392,935] |
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 |
12p13.33 |
CACNA1C |
rs216013-? |
NR |
9 x 10-7 |
NR |
Illumina
[538,629] |
Chen June 04, 2008 J Clin Invest Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels
|
Fasting plasma blood 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] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[~500,000]
(pooled) |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[334,563] |
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 |
NRG3 NUBPL SLCO3A1 BRUNOL4 CERKL |
rs4933824-T rs7142881-A rs3924426-T rs4799915-T rs993648-T |
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 |
NR NR NR NR NR |
Affymetrix
[339,272] |
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) |
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] |
"
|
Blue vs. green eyes |
5,130 individuals |
3,330 individuals |
9p23 |
TYRP1 |
rs1408799-C |
0.75 |
6 x 10-17 |
1.40 [1.25-1.57] |
Illumina
[316,515] |
"
|
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] |
"
|
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] |
"
|
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] |
"
|
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] |
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 5p13.3 6p25.3 15q13.1 |
IRF4 MATP EXOC2 HERC2 |
rs12203592-T rs28777-C rs6918152-A rs12913832-A |
NR NR NR NR |
7 x 10-127 1 x 10-17 6 x 10-8 4 x 10-103 |
0.35 [0.33-0.37] decrease in hair color score 0.46 [0.36-0.56] decrease in hair color score 0.11 [0.07-0.15] increase in hair color score 0.44 [0.40-0.48] decrease in hair color score |
Illumina
[528,173] |
"
|
Black vs. red hair color |
2,287 women |
870 women |
15q13.1 6p25.3 5p13.3 6p25.3 |
HERC2 IRF4 MATP EXOC2 |
rs12913832-A rs12203592-T rs28777-C rs6918152-A |
NR NR NR NR |
1 x 10-77 9 x 10-28 9 x 10-14 5 x 10-7 |
0.44 [0.40-0.48] decrease in hair color score 0.31 [0.25-0.36] decrease in hair color score 0.46 [0.34-0.58] decrease in hair color score 0.11 [0.07-0.15] increase in hair color score |
Illumina
[528,173] |
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 |
0.5 |
9 x 10-15 |
1.37 [1.27-1.49] |
Illumina
[464,934] |
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 17q12 11q23.1 6q26 22q11.23 |
IL6R CCL4L2 IL18 LPA GGT1 |
rs4129267-C rs4796217-T rs2250417-A rs7770628-T rs5751901-T |
0.37 0.34 0.44 0.49 0.39 |
2 x 10-57 4 x 10-21 7 x 10-13 4 x 10-10 2 x 10-7 |
NR NR NR NR NR |
Illumina
[496,032] |
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] |
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 |
18q21.32 |
MC4R |
rs12970134-A |
0.36 |
2 x 10-9 |
0.88 [0.59-1.17] cm increase in waist circumference |
Illumina
[308,067] |
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 |
MC4R |
rs17782313-C |
0.24 |
3 x 10-15 |
0.05 (0.04-0.06) unit increase in log(BMI) |
Affymetrix
[344,883] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[469,218] |
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 |
0.13 [NR] SD decrease 0.09 [NR] SD decrease |
Illumina
[314,075] |
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 |
ZBTB40 OPG ESR1 RANKL |
rs7524102-A rs6993813-C rs1038304-G rs9594738-T |
0.82 0.50 0.47 0.56 |
5 x 10-16 3 x 10-11 5 x 10-9 2 x 10-8 |
0.15 (0.11-0.19) SD decrease 0.09 (0.07-0.12) SD decrease 0.08 (0.06-0.11) SD decrease 0.10 (0.06-0.13) SD decrease |
Illumina
[301,019] |
"
|
Bone mineral density (spine) |
5,861 individuals |
7,925 individuals |
13q14.11 8q24.12 6p25.1 1p36.12 6p21.32 |
RANKL OPG ESR1 ZBTB40 MHC, C6orf10 |
rs9594759-T rs6469804-A rs4870044-T rs7524102-A rs3130340-T |
0.62 0.51 0.28 0.82 0.79 |
2 x 10-21 7 x 10-15 2 x 10-11 9 x 10-9 1 x 10-7 |
0.17 (0.14-0.21) SD decrease 0.12 (0.09-0.15) SD decrease 0.11 (0.08-0.14) SD decrease 0.11 (0.07-0.15) SD decrease 0.10 (0.06-0.13) SD decrease |
Illumina
[301,019] |
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] |
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 |
HNF1A |
rs1169310-A |
0.38 |
2 x 10-8 |
0.13 (0.08-0.17) mg/l decrease in log(CRP) level |
Illumina
[317,000] |
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 |
1q31.3 12q24.31 2p23.3 12q23.2 1q21.3 |
LEPR HNF1A GCKR Unknown IL6R |
rs1892534-A rs7310409-A rs780094-A rs10778213-G rs8192284-? |
NR NR NR NR NR |
7 x 10-21 7 x 10-17 7 x 10-15 1 x 10-10 2 x 10-8 |
0.17 [NR] mg/dl decrease 0.15 [NR] mg/dl decrease 0.14 [NR] mg/dl increase 0.12 [NR] mg/dl decrease 0.10 [NR] mg/dl decrease |
Illumina
[336,108] |
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 |
0.30 [NR] ng/ml decrease in serum YKL-40 levels  |
Affymetrix
[290,325] |
Gudbjartsson April 06, 2008 Nat Genet Many sequence variants affecting diversity of adult human height
|
Height |
30,968 individuals |
8,541 individuals |
3q23 7p22.2 6q24.1 4q31.22 6p24.3 |
ZBTB38 GNA12 GPR126 HHIP BMP6 |
rs6763931-A rs798544-G rs3748069-A rs1812175-C rs12198986-A |
0.45 0.72 0.74 0.86 0.50 |
1 x 10-27 7 x 10-15 5 x 10-14 1 x 10-11 2 x 10-11 |
7.40 (0.7) % SD taller 5.90 (0.8) % SD taller 6.50 (0.9) % SD taller 8.30 (1.2) % SD taller 6.80 (1.0) % SD taller |
Illumina and Affymetrix
[up to 304,226] |
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
6q24.3
6q22.1
4q31.22
14q32.12 |
ZBTB38
GPR126
HISTH1D
HHIP
TRIP11,ATXN3 |
rs724016-G
rs4896582-A
rs10946808-G
rs1492820-G
rs8007661-T |
0.48
0.27
0.28
0.48
0.30 |
8 x 10-22
2 x 10-18
4 x 10-17
1 x 10-11
6 x 10-10 |
0.37 (0.04) cm taller 0.38 (0.05) cm shorter 0.36 (0.05) cm shorter 0.29 (0.04) cm shorter 0.42 (0.06) cm shorter |
Affymetrix and Illumina
[2,260,683]
(imputed) |
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 |
ZBTB38
CDK6
HMGA2
GDF5
LCORL |
rs6440003-A
rs2282978-C
rs1042725-C
rs6060373-G
rs16896068-A |
0.44
0.33
0.49
0.38
0.16 |
2 x 10-24
8 x 10-23
3 x 10-18
2 x 10-17
2 x 10-13 |
0.07 [0.04-0.09] SD taller - among males 0.09 [0.06-0.12] SD taller - among males 0.05 [0.03-0.08] SD taller - among males 0.08 [0.05-0.11] SD shorter - among males 0.07 [0.03-0.11] SD shorter - among males |
Affymetrix
[402,951] |
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 |
13q13 |
COG6 |
rs7993214-? |
0.65 |
2 x 10-6 |
1.41 [1.22-1.61] |
Illumina
[305,983] |
Amos April 03, 2008 Nat Genet Genome-wide association scan of tag SNPs identifies a susceptibility locus for lung cancer at15q251
|
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 |
1.30 [1.15-1.47] 1.22 [1.10-1.35] 1.16 [1.05-1.28] |
Illumina
[317,498] |
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 |
1.30 [1.23-1.37] |
Illumina
[310,023] |
Thorgeirsson April 03, 2008 Nature A variant associated with nicotine dependence, lung cancer and peripheral arterial disease
|
Nicotine dependence, lung cancer and peripheral arterial disease |
ND: 10,995 smokers |
ND: 4,848 smokers.
LC:1,024 cases,
32,244 controls
PAD:2,738 cases,
29,964 controls |
15q25.1
15q25.1
15q25.1 |
CHRNA3,CHRNA5,CHRNB4
CHRNA3,CHRNA5,CHRNB4
CHRNA3,CHRNA5,CHRNB4 |
rs1051730-T
rs1051730-T
rs1051730-T |
0.35
0.35
0.35 |
6 x 10-20 (ND)
2 x 10-8 (LC)
1 x 10-7 (PAD) |
0.10 [0.08-0.12] increase in cigarettes per day 1.31 [1.19-1.44](LC) 1.19 [1.12-1.27](PAD) |
Illumina
[306,207] |
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 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 |
1.20 [1.16-1.24] 1.19 [1.15-1.23] 1.11 [1.08-1.15] |
Illumina
[541,628] |
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 |
EIF3H Intergenic |
rs16892766-A rs10795668-A |
0.07 0.67 |
3 x 10-18 3 x 10-13 |
1.27 [1.20-1.34] 1.12 [1.10-1.16] |
Affymetrix
[547,647] |
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 |
7p15.1 10p13 12q21.1 2p21 3p14.1 |
JAZF1 CDC123,CAMK1D TSPAN8,LGR5 THADA ADAMTS9 |
rs864745-T rs12779790-G rs7961581-C rs7578597-T rs4607103-C |
0.50 0.18 0.27 0.90 0.76 |
5 x 10-14 1 x 10-10 1 x 10-9 1 x 10-9 1 x 10-8 |
1.10 [1.07-1.13] 1.11 [1.07-1.14] 1.09 [1.06-1.12] 1.15 [1.10-1.20] 1.09 [1.06-1.12] |
Affymetrix and Illumina
[2,202,892]
(imputed) |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[117,062] (pooled) |
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 |
20q13.13 |
SPATA2 |
rs495337-? |
NR |
1 x 10-8 |
1.25 [1.12-1.39] |
Illumina
[~408,000]
(pooled) |
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] |
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 |
Affymetrix
[~550,000]
(pooled) |
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 |
0.4 |
3 x 10-70 |
0.35 [NR] mg/dl decrease in uric acid |
Affymetrix
[335,152] |
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 |
0.88 [NR] uM decrease in uric acid [females only] |
Illumina
[308,140] |
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
(BMI > 40 kg/m²),
2,916 lean individuals (BMI < 25 kg/m²) |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[379,319] |
Sklar March 04, 2008 Mol Psychiatry Whole-genome association study of bipolar disorder
|
Bipolar disorder 1 |
1,461 cases,
2,008 controls |
409 trios, 365 cases, 351 controls |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[372,193] |
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 |
1q31.2 3q25.33 2q12.1 3q28 6q25.3 |
RGS1 IL12A, SCHIP1 IL1RL1,IL18R1,IL18RAP, SLC9A4 LPP TAGAP |
rs2816316-C rs17810546-G rs13015714-C rs1464510-A rs1738074-A |
NR NR NR NR NR |
3 x 10-11 1 x 10-9 4 x 10-9 5 x 10-9 7 x 10-8 |
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] |
Illumina
[310,605] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[up to 466,883]
(pooled) |
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] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix [510,552] |
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 11q13.2 6q25.3 7q21.3 |
MSMB KLK3 Intergenic SLC22A3 LMTK2 |
rs10993994-T rs2735839-G rs7931342-G rs9364554-T rs6465657-C |
0.40 0.85 0.51 0.29 0.46 |
9 x 10-29 2 x 10-18 2 x 10-12 6 x 10-10 1 x 10-9 |
1.25 [1.17-1.34] 1.20 [1.10-1.33] 1.19 [1.11-1.27] 1.17 [1.08-1.26] 1.12 [1.05-1.20] |
Illumina [541,129] |
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] |
Thomas February 10, 2008 Nat Genet Multiple loci identified in a genome-wide association study of prostate cancer
|
Prostate cancer (aggressive) |
1,172 cases,
1,157 controls |
3,941 cases,
3,964 controls |
10q11.23 11q13.2 10q26.13 7p15.2 |
MSMB Intergenic CTBP2 JAZF1 |
rs10993994-T rs10896449-G rs4962416-C rs10486567-G |
0.40 0.52 0.27 0.77 |
7 x 10-13 2 x 10-9 2 x 10-7 2 x 10-6 |
1.16 [1.04-1.29] 1.10 [0.98-1.23] 1.17 [1.05-1.30] 1.12 [1.02-1.25] |
Illumina
[527,869] |
Sandhu February 09, 2008 Lancet LDL-cholesterol concentrations: a genome-wide association study
|
LDL cholesterol |
11,685 individuals from 5 genome-wide scans |
5,036 individuals |
1p13.3 |
CELSR2 |
rs599839-G |
0.19 |
1 x 10-33 |
0.15 [.13-.19] SD decrease in LDL |
Affymetrix and Illumina [up to 461,986] |
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 |
0.48 [NR] SD decrease in HbF 0.58 [NR] SD decrease in HbF |
Affymetrix [362,129] |
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 |
rs1670533-C |
0.23 (men and women combined) |
2 x 10-12 |
88.20 [63.7-112.7] cM increase |
Illumina
[309,241] |
"
|
Recombination rate (males) |
1,887 men |
1,248 men |
4p16.3 |
RNF212 |
rs3796619-T
|
0.33 (men and women combined)
|
3 x 10-24
|
70.70 [84.3-57.1] cM decrease
|
Illumina [309,241] |
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 from 3 separate genome-wide scans |
8,273 individuals |
15q13.1 |
HERC2 |
rs916977-? |
NR |
1 x 10-43 |
NR |
Affymetrix and Illumina
[up to ~500,000]
(pooled) |
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) |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[449,127] |
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 |
16p11.2 11p15.5 3p14.3 1q25.1 |
ITGAM KIAA1542 PXK Intergenic |
rs9888739-T rs4963128-? rs6445975-C rs10798269-? |
0.13 0.34 0.28 0.64 |
2 x 10-23 3 x 10-10 7 x 10-9 1 x 10-7 |
1.62 [1.47-1.78] 1.28 [1.18-1.37] 1.25 [1.16-1.35] 1.22 [1.14-1.32] |
Illumina
[317,501] |
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 |
16p11.2 8p23.1 |
ITGAM, ITGAX C8orf13, BLK |
rs11574637-C rs13277113-A |
0.19 0.23 |
3 x 10-11 1 x 10-10 |
1.33 [1.22-1.46] 1.39 [1.28-1.51] |
Illumina
[502,033] |
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] |
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 |
563 cases,
1,146 controls,
483 trios |
549 families,
1092 individuals from 364 trios |
12q13.2 |
RAB5B, SUOX, IKZF4, ERBB3, CDK2 |
rs1701704-C |
0.35 |
9 x 10-10 |
1.25 [1.12-1.40] (3-SNP haplotype) |
Illumina
[543,071] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[~100,000]
(pooled) |
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 |
1q42.13 |
GALNT2 |
rs4846914-G |
0.40 |
2 x 10-13 |
0.07 [0.05-0.09] SD higher |
Affymetrix
[389,878] |
"
|
LDL cholesterol |
2,758 individuals |
18,544 individuals |
1p13.3 19p13.11 |
CELSR2,PSRC1,SORT1 CILP2, PBX4 |
rs646776-C rs16996148-G |
0.24 0.90 |
3 x 10-29 3 x 10-8 |
0.16 [0.14-0.18] SD lower 0.10 [0.06-0.14] SD lower |
Affymetrix
[389,878] |
"
|
Triglycerides |
2,758 individuals |
18,544 individuals |
7q11.23 8q24.13 1q42.13 19p13.11 1p31.3 |
BCL7B, TBL2, MLXIPL TRIB1 GALNT2 CILP2, PBX4 ANGPTL3, DOCK7, ATG4C |
rs17145738-T rs17321515-A rs4846914-G rs16996148-G rs12130333-C |
0.13 0.49 0.40 0.90 0.78 |
7 x 10-22 4 x 10-17 7 x 10-15 4 x 10-9 2 x 10-8 |
0.14 [0.25-0.53] SD lower 0.08 [0.06-0.10] SD lower 0.08 [0.06-0.10] SD higher 0.10 [0.06-0.14] SD lower 0.11 [0.07-0.15] SD lower |
Affymetrix
[389,878] |
Kooner January 13, 2008 Nat Genet Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides
|
Triglycerides |
2,011 individuals |
10,536 individuals |
7q11.23 |
MLXIPL |
rs3812316-C |
0.95 |
1 x 10-10 |
10.50 [5.3-17.7]% higher |
Perlegen
[up to 216,774] |
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 |
0.44 [NR] cm taller 0.86 [NR] cm taller 0.66 [NR] cm taller 0.61 [NR] cm taller 0.90 [NR] cm taller |
Illumina and Affymetrix
[~2,261,000] (imputed) |
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 |
1q42.13 12q24.11 |
GALNT2 MVK,MMAB |
rs2144300-C rs2338104-G |
NR 0.45 |
3 x 10-14 3 x 10-8 |
1.11 [NR] mg/dl higher 0.48 [NR] mg/dl higher |
Illumina and Affymetrix
[~2,261,000] (imputed) |
"
|
LDL cholesterol |
8,589 individuals |
7,440-10,783 individuals |
1p13.3
19p13.11
6p21.32 |
CELSR2,PSRC1,SORT1
NCAN,CILP2
B3GALT4 |
rs599839-A
rs16996148-G
rs2254287-G |
0.77
0.89
0.38 |
6 x 10-33
3 x 10-9
5 x 10-8 |
5.48 [NR] mg/dl higher 3.32 [NR] mg/dl higher 1.91 [NR] mg/dl higher |
Illumina and Affymetrix
[~2,261,000] (imputed) |
"
|
Triglycerides |
8,684 individuals |
5,312-9,707 individuals |
2p23.3
8q24.13
7q11.23
1p31.3
19p13.3 |
GCKR
TRIB1
MLXIPL
ANGPTL3
NCAN,CILP2 |
rs780094-T
rs17321515-A
rs17145738-C
rs1748195-C
rs16996148-G |
0.39
0.56
0.84
0.70
0.92 |
6 x 10-32
7 x 10-13
2 x 10-12
2 x 10-10
3 x 10-9 |
8.59 [NR] mg/dl higher 6.42 [NR] mg/dl higher 8.21 [NR] mg/dl higher 7.12 [NR] mg/dl higher 6.10 [NR] mg/dl higher |
Illumina and Affymetrix
[~2,261,000]] (imputed) |
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) |
1p13.3 |
CELSR2,PSRC1 |
rs599839-G |
0.24 |
1 x 10-7 |
0.95 [0.93-0.97] mMol/L higher |
Affymetrix
[400,496] |
"
|
Serum urate |
1,955 hypertensive individuals |
2,033 individuals in 519 families;
1,461 twins (1/pair selected randomly) |
4p16.1 |
SLC2A9 |
rs7442295-A |
0.79 |
2 X 10-15 |
0.02 [0.02-0.03] mMol/L higher |
Affymetrix [400,496] |
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
|
Early onset extreme obesity |
487 young cases,
442 controls |
2,269 individuals in 644 families |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[440,794] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Illumina & Affymetrix
[60,275] |
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 |
DPP6 |
rs10260404-C |
0.35 |
5 x 10-8 |
1.30 [1.18-1.43] |
Illumina
[311,946] |
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] |
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 cases,
50 controls |
151 Japanese cases, 160 Japanese controls |
14q21.1 |
NR |
rs10498345-T |
0.3 |
9 x 10-7 |
2.33 [1.64-3.23] |
Affymetrix
[97,552] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[469,438] |
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 |
0.32 [NR] mg/dl higher |
Affymetrix [362,129] |
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 |
TNFAIP3, OLIG3 |
rs10499194-C |
0.71 |
1 x 10-9 |
1.33 [1.15-1.52] |
Affymetrix
[79,853] |
Webster November 01, 2007 Neurodegener Dis Sorl1 as an Alzheimer's disease predisposition gene?
|
Alzheimer's disease |
664 cases,
422 controls |
NR |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[~502,627] |
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 12q21.33 |
SLC24A4 KITLG |
rs4904868-C+rs2402130-A rs12821256-C |
0.60 0.15 |
9 x 10-24 2 x 10-14 |
2.56 [2.12-3.09] 2.32 [1.86-2.92] |
Illumina
[317,511] |
"
|
Blue vs. green eyes |
2,986 individuals |
3,932 individuals |
14q32.12 |
SLC24A4 |
rs4904868-C+rs2402130-A |
0.60 |
2 x 10-18 |
2.06 [1.76-2.42] |
Illumina
[317,511] |
"
|
Freckles |
2,986 individuals |
3,932 individuals |
6p25.3 |
SEC5L1,IRF4 |
rs1540771-A |
0.50 |
4 x 10-18 |
1.40 [1.26-1.57] |
Illumina
[317,511] |
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 |
0.30 0.97 0.90 |
1 x 10-50 3 x 10-11 4 x 10-10 |
12.50 [8.33-20.0] 4.86 [2.88-8.21] 4.36 [2.64-7.20] |
Perlegen [1,502,205] (pooled) |
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] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[241,701] |
Benjamin September 19, 2007 BMC Med Genet Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project
|
Select biomarker traits |
1,012 individuals
(Framingham) |
NR |
1q23.2 1q23.2
1q23.2 1p31.1
19q12 |
FCER1A,OR10J3 OR10J1
CRP Intergenic
ZNF536 |
rs2494250-? rs4128725-?
rs2794520-? rs7552393-?
rs746961-? |
NR NR NR NR NR |
1 x 10-14 (MCP1) 4 x 10-12 (MCP1)
3 x 10-8 (CRP average 2,6 5 x 10-7 (TNFA)
8 x 10-7 (CRP6) |
NR NR NR NR NR |
Affymetrix
[70,897] |
Fox September 19, 2007 BMC Med Genet Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project
|
BMI |
1,341 individuals
(Framingham) |
NR |
7q32.3
7q23.3
13q21.32 |
Intergenic
Intergenic
Intergenic |
rs1106683-?
rs1106684-?
rs1333026-? |
NR NR NR |
1 x 10-7 (BMI)
2 x 10-6 (BMI)
8 x 10-6 (BMI) |
NR NR NR |
Affymetrix
[70,897] |
"
|
Waist circumference traits |
1,341 individuals
(Framingham) |
NR |
8q21.1
3q13.31 |
GDAP1
Intergenic |
rs4471028-?
rs1875517-? |
NR NR |
2 x 10-7 (WC)
2 x 10-6 (WC) |
NR NR |
Affymetrix
[70,897] |
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] |
"
|
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] |
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] |
"
|
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] |
"
|
Urinary albumin excretion |
810-1,010 individuals
depending on measure
(Framingham |
NR |
11q23.2 |
FAM55B |
rs1712790-? |
NR |
2 x 10-6 |
NR |
Affymetrix
[70,897] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[70,897] |
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 |
Intergenic |
rs9317284-? |
NR |
2x10-7 (FNBMDm) |
NR |
Affymetrix
[70,897] |
"
|
Hip geometry |
1,141 individuals
(Framingham) |
NR |
12q21.31
5p14.1
8p12 5q14.3 |
Intergenic
Intergenic
NRG1 GPR98 |
rs10506821-?
rs2548003-?
rs10503887-? rs10514345-? |
NR NR NR NR |
2 x 10-7 (ShaftW1f)
2 x 10-7 (NeckZ1rf)
2 x 10-7 (ShaftZ1R) 2 x 10-7 (NeckZ1) |
NR NR NR NR |
Affymetrix
[70,897] |
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
10q25.3
11q22.1 |
Intergenic
KIAA1598
CNTN5 |
rs958546-?
rs4776472-?
rs10501920-? |
NR NR NR |
5x10-6
8x10-6
9x10-6 |
NR NR NR |
Affymetrix
[70,897] |
"
|
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] |
"
|
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] |
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 |
1p31.3
14q24.3
8q13.3 |
Intergenic
Intergenic
Intergenic |
rs10493340-?
rs935334-?
rs1963982-? |
NR NR NR |
2x10-6 (SBP)
3x10-6 (DBP)
3x10-6 (DBP) |
NR NR NR |
Affymetrix
[70,897] |
"
|
Tonometry |
644-1,327 individuals, depending on measure
(Framingham |
NR |
20q13.13 5q14.3 |
PREX1 MEF2C |
rs6063312-? rs770189-? |
NR NR |
2 x 10-6 (RW) 3 x 10-6 (CB-PWV) |
NR NR |
Affymetrix
[70,897] |
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 |
Intergenic
Intergenic
Intergenic |
rs10496265-?
rs1463605-?
rs1528753-? |
NR NR NR |
1 x 10-8 (age at natural menopause)
7 x 10-8 (biologic age)
8 x 10-8 (age at death) |
NR NR NR |
Affymetrix
[70,897] |
"
|
Morbidity-free survival |
1,345 individuals
(Framingham) |
NR |
1q24.2 5p15.32 |
DPT Intergenic |
rs1412337-? rs32566-? |
NR NR |
2 x 10-9 2 x 10-9 |
NR NR |
Affymetrix
[70,897] |
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 |
Intergenic
Intergenic |
rs2877832-?
rs2877832-? |
NR NR |
2 x 10-6 (FI)
3 x 10-6 (HOMA-IR) |
NR NR |
Affymetrix
[70,897] |
"
|
Fasting plasma blood glucose |
1,087 individuals
(Framingham) |
NR |
8p11.21
3p24.1 |
ZMAT4
Intergenic |
rs2722425-?
rs10510634-? |
NR NR |
2 x 10-8 (tFPG)
5 x 10-6 (tFPG) |
NR NR |
Affymetrix
[70,897] |
"
|
Incident diabetes |
1,087 individuals
(Framingham) |
NR |
2q32.3 |
TMEFF2 |
rs10497721-? |
NR |
7 x 10-7 |
NR |
Affymetrix
[70,897] |
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 |
COLIA1
Intergenic
Intergenic
Intergenic
ABCC4 |
rs2075555-?
rs6556756-?
rs1154865-?
rs1978503-?
rs1926657-? |
NR NR NR NR NR |
8 x 10-8
5 x 10-7
7 x 10-7
9.7 x 10-7
2 x 10-6 |
NR NR NR NR NR |
Affymetrix
[70,897] |
"
|
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] |
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] |
"
|
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] |
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 |
Intergenic
NUMB |
rs2390582-?
rs10483853-? |
NR NR |
1 x 10-6
6 x 10-6 |
NR NR |
Affymetrix
[70,897] |
"
|
Other subclinical atherosclerosis traits |
673-984 individuals, depending on measure
(Framingham |
NR |
2q33.2
10q11.22
5p15.2 |
ABI2
LRRC18
DNAH5 |
rs1376877-?
rs3849150-?
rs2896103-? |
NR NR NR |
4 x 10-7 (ICA IMT)
2 x 10-6 (AAC)
5 x 10-6 (ABI) |
NR NR NR |
Affymetrix
[70,897] |
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
14q24.3
21q21.3
4q13.2 |
Intergenic
Intergenic
Intergenic
Intergenic |
rs2179965-?
rs235904-?
rs2832077-?
rs1155865-? |
NR NR NR NR |
1 x 10-6 (F3)
2 x 10-6 (F2)
2 x 10-6 (F3)
2 x 10-6 (Nam) |
NR NR NR NR |
Affymetrix
[70,897] |
"
|
Volumetric brain MRI |
705 individuals
(Framingham) |
NR |
20q13.33 |
CDH4 |
rs1970546-? |
NR |
4 x 10-8 (ATCBV) |
NR |
Affymetrix
[70,897] |
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 |
SLIT2
SPACA1 |
rs1379659-?
rs366676-? |
NR NR |
1 x 10-7 (LVD)
2 x 10-6 (LVFS) |
NR NR |
Affymetrix
[70,897] |
"
|
Endothelial function traits |
1,238 individuals
(Framingham) |
NR |
10q24.33 |
OBFC1 |
rs3814219-? |
NR |
9 x 107 (BABF) |
NR |
Affymetrix
[70,897] |
"
|
Exercise treadmill test traits |
1,238 individuals
(Framingham) |
NR |
4q25
1q43 |
NOLA1
RYR2 |
rs6847149-?
rs2819770-? |
NR NR |
3 x 10-6 (S2EHR)
4 x 10-6 (S2EHR) |
NR NR |
Affymetrix
[70,897] |
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] |
"
|
Other pulmonary function traits |
1,097-1,222 individuals,
depending on measure
(Framingham) |
NR |
15q11.2
21q22.3
15q26.1 |
SNRPN
ADARB1
FLJ32831 |
rs3867498-?
rs2838815-?
rs1455782-? |
NR NR NR |
1 x 10-6 (fev1slope)
3 x 10-6 (meanratio)
4 x 10-6 (ppfvc) |
NR NR NR |
Affymetrix
[70,897] |
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 |
7p22.2 1p36.32 3p26.1 |
Intergenic Intergenic Intergenic |
rs10488360-? rs966321-? rs4591494-? |
0.30 0.47 0.19 |
7 x 10-6 8 x 10-6 9 x 10-6 |
NR NR NR |
Affymetrix
[70,897] |
"
|
Hemostatic factors and hematological phenotypes |
1,000 individuals
(Framingham |
NR |
1p31.1 5q21.3 |
NEGR1 Intergenic |
rs10493485-? rs4460176-? |
0.29 0.29 |
2 x 10-6 (tPA) 3 x 10-6 (PAI-1) |
NR NR |
Affymetrix
[70,897] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[66,543] |
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,
172 sibships |
1,207 cases,
1,627 controls |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[80,044] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[88,142] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[82,485] |
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 |
1030 cases,
1195 controls |
12p11 |
ITPR2 |
rs2306677-? |
0.07 |
3 x 10-6 |
1.58 [1.30-1.91] |
Illumina
[311,946] |
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 |
9q34 |
TRAF1-C5 |
rs3761847-G |
0.41 |
4 x 10-14 |
1.32 [1.23-1.42] |
Illumina [297,086] |
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 |
521 trios,
750 cases,
828 controls |
1p31.3 1p31.3 |
IL23R IL23R |
17 marker haplotype-1 17 marker haplotype-2 |
0.23
0.97 |
1 x 10-8 2 x 10-7 |
1.38 [1.23-1.53] 2.56 [1.75-3.70] |
Perlegen [164,279] |
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 |
10.20 [NR] % of variance explained 15.80 [NR] % of variance explained 13.10 [NR] % of variance explained |
Illumina
[308,015] |
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 |
0.40 [NR] cm per copy in adult height |
Affymetrix [364,301] |
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 |
20.10 [10.80-37.41] |
Illumina
[304,250] |
Franke August 08, 2007 PLoS ONE Systematic association mapping identifies NELL1 as a novel IBD disease gene
|
Irritable bowel syndrome |
393 cases,
399 controls |
2,920 cases,
1,961 controls,
1,248 trios |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[92,387] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix and
Illumina
[776,955] |
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] |
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) |
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 |
10p15.1 5p13.2 16p13 1p22 9q33 |
IL2RA IL7RA KIAA0350 RPL5 DBC1 |
rs12722489-C rs6897932-C rs6498169-G rs6604026-C rs10984447-A |
0.85 0.75 0.37 0.29 0.77 |
3 x 10-8 3 x 10-7 4 x 10-6 8 x 10-6 8 x 10-6 |
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] |
Moffatt July 26, 2007 Nature Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma
|
Childhood asthma, ORMDL3 expression |
994 cases,
1,243 controls |
2,320 cases,
3,301 controls |
17q21 |
Intergenic |
rs7216389-T |
0.52 |
9 x 10-11 |
1.45 [1.17-1.81] |
Illumina
[307,328] |
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: (body mass index, hip circumference, body weight) |
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) |
-0.16 [NR] SD lower (hip) -0.13 [NR] SD lower (BMI) -0.12 [NR] SD lower (weight) |
Affymetrix
[362,129] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Illumina
[535,101] |
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 |
1.90 [1.50-2.20] |
Illumina
[306,937] |
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 |
6q25.1 2q36.3 |
MTHFD1L pseudogene |
rs6922269-A rs2943634-C |
0.25 0.65 |
3 x 10-8 2 x 10-7 |
1.23 [1.15-1.33] 1.21 [1.13-1.30] |
Affymetrix [377,857] |
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] 1.50 [1.36-1.66] |
Affymetrix
[236,758] |
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 |
2p24.2 |
ABCG8 |
rs11887534-C |
0.10 |
1 x 10-14 |
2.20 [1.80-2.60] |
Affymetrix
[382,492] |
Hakonarson July 15, 2007 Nature A genome-wide association study identifies KIAA0350 as a type 1 diabetes gene
|
Type 1 diabetes |
561 cases,
1,143 controls,
467 trios |
1,333 individuals in 549 families; 390 trios |
16p13.13 |
KIAA0350 |
rs2903692-G |
0.62 |
7 x 10-11 |
1.54 [1.32-1.79] |
Illumina
[543,071] |
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] |
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] |
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] |
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] 1.20 [1.14-1.27] |
Illumina
[310,520] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Illumina
[315,917] |
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 |
4q27 |
KIA1109,TENR,IL2,IL21 |
rs6822844-G |
0.82 |
1 x 10-14 |
1.59 [1.41-1.75] |
Illumina
[310,605] |
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 |
0.7 |
1 x 10-10 |
4.06 [2.81-14.69] |
Affymetrix
[312,316] |
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 20p13 2q37 |
PALB2,NDUFAB1,DCTN5 NR NR NR NR |
rs420259-A rs6458307-? rs683395-G rs3761218-C rs2953145-C |
0.72 0.69 0.08 0.64 0.23 |
6 x 10-8 4 x 10-6 5 x 10-6 7 x 10-6 7 x 10-6 |
2.08 [1.60-2.71] 1.19 [1.04-1.33] 1.47 [1.26-1.71] 1.03 [1.15-1.23] 1.84 [1.31-2.58] |
Affymetrix [469,557] |
"
|
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] |
"
|
Crohn's disease |
1,748 cases,
2,938 controls |
(see Parkes 2007) |
3p21.31 10q24.2 18p11.21 5q33.1 6p21 |
BSN, MST1 NKX2-3 PTPN2 IRGM NR |
rs9858542-A rs10883365-G rs2542151-G rs1000113-T rs9469220-A |
0.28 0.48 0.16 0.07 0.48 |
4 x 10-8 6 x 10-8 2 x 10-7 3 x 10-7 2 x 10-6 |
1.09 [0.96-1.24] 1.20 [1.03-1.39] 1.30 [1.14-1.48] 1.54 [1.31-1.82] 1.14 [0.98-1.32] |
Affymetrix
[469,557] |
"
|
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] 1.03 [0.80-1.32] |
Affymetrix
[469,557] |
"
|
Rheumatoid arthritis |
1,860 cases,
2,938 controls |
NR |
7q32.3 22q13 21q22 7q32 |
Intergenic NR NR NR |
rs11761231-C rs743777-G rs2837960-G rs3816587-C |
0.62 0.29 0.17 0.41 |
4 x 10-7 (sex-differentiated) 1 x 10-6 2 x 10-6 9 x 10-6 |
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] |
"
|
Type 1 diabetes |
1,963 cases,
2,938 controls |
(see Todd 2007) |
12q24.13 12q13.2 16p13.13 12p13 4q27 |
SH2B3,LNK,TRAFD1,PTPN1 ERBB3 KIAA0350 NR NR |
rs17696736-G rs11171739-C rs12708716-A rs11052552-G rs17388568-A |
0.42 0.42 0.65 0.49 0.26 |
2 x 10-14 1 x 10-11 5 x 10-7 7 x 10-7 3 x 10-6 |
1.34 [1.16-1.53] 1.34 [1.17-1.54] 1.19 [0.97-1.45] 1.49 [1.28-1.73] 1.26 [1.11-1.42] |
Affymetrix
[469,557] |
"
|
Type 2 diabetes |
1,924 cases,
2,938 controls |
(see Zeggini 2007) |
16q12.2 6p22.3 3p14 12q13 12q15 |
FTO CDKAL1 NR NR NR |
rs9939609-A rs9465871-C rs358806-? rs12304921-G rs1495377-G |
0.40 0.18 0.80 0.15 0.50 |
2 x 10-7 3 x 10-7 3 x 10-6 7 x 10-6 7 x 10-6 |
1.34 [1.17-1.52] 1.18 [1.04-1.34] 1.16 [1.03-1.33] 2.50 [1.53-4.09] 1.28 [1.11-1.49] |
Affymetrix
[469,557] |
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 |
5q33.1 10q24.2 18p11.2 1q31.2 3p21.31 |
IRGM NKX2-3 PTPN2 Intergenic MST1 |
rs13361189-? rs10883365-? rs2542151-? rs10801047-? rs9858542-? |
0.08 0.48 0.18 0.08 0.29 |
2 x 10-10 4 x 10-10 3 x 10-8 3 x 10-8 5 x 10-8 |
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] |
see WTCCC |
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 |
4,000 cases,
5,000 controls,
2,997 trios |
12q13.2 16p13.13 12q24.13 18p11.21 18q22.2 |
ERBB3 KIAA0350 C12orf30 PTPN2 CD226 |
rs2292239-A rs12708716-A rs17696736-G rs2542151-C rs763361-A |
0.34 0.68 0.42 0.16 0.47 |
2 x 10-20 3 x 10-18 2 x 10-16 1 x 10-14 1 x 10-8 |
1.28 [1.21-1.35] 1.23 [1.16-1.30] 1.22 [1.15-1.28] 1.30 [1.22-1.40] 1.16 [1.10-1.22] |
see WTCCC |
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 |
FGFR2 TNCR9,LOC643714 MAP3K1 Intergenic LSP1 |
rs2981582-G rs3803662-C rs889312-A rs13281615-T rs3817198-T |
0.38 0.25 0.28 0.40 0.30 |
2 x 10-76 1 x 10-36 7 x 10-20 5 x 10-12 3 x 10-9 |
1.26 [1.23-1.30] 1.20 [1.16-1.24] 1.13 [1.10-1.16] 1.08 [1.05-1.11] 1.07 [1.04-1.11] |
Perlegen
[205,586] |
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 |
1.20 [1.07-1.42] |
Illumina
[528,173] |
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] 1.20 [1.14-1.26] |
Illumina
[311,524] |
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 |
DRB1 |
DRB1*07 |
NR |
9 x 10-6 |
4.41 [2.20-8.87] |
Perlegen
[~266,722] |
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) |
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-? |
NR NR NR NR |
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] |
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] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Perlegen
[72,864] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[~502,627]
(pooled) |
Saxena April 26, 2007 Science Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
|
Type 2 diabetes |
1,464 cases,
1,467 controls |
5,065 cases,
5,785 controls |
3q27.2 9p21.3 6p22.3 |
IGF2BP2 CDKN2A,CDKN2B CDKAL1 |
rs4402960-T rs10811661-T rs7754840-C |
0.29 0.83 0.31 |
9 x 10-16 8 x 10-15 4 x 10-11 |
1.14 [1.11-1.18] 1.20 [1.14-1.25] 1.12 [1.08-1.16] |
Affymetrix
[386,731] |
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 |
3q27.2 9p21.3 6p22.3 11p12 |
IGF2BP2 CDKN2A, CDKN2B CDKAL1 Intergenic |
rs4402960-T rs10811661-T rs7754840-C rs9300039-C |
0.30 0.85 0.36 0.89 |
9 x 10-16 8 x 10-15 4 x 10-11 4 x 10-7 |
1.14 [1.11-1.18] 1.20 [1.14-1.25] 1.12 [1.08-1.16] 1.25 [1.15-1.37] |
Illumina
[315,635] |
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 |
6p22.3 |
CDKAL1 |
rs7756992-G |
0.26 |
8 x 10-9 |
1.20 [1.13-1.27] |
Illumina
[313,179 SNPs; 339,846 2-SNP haplotypes] |
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 |
3q27.2 9p21.3 16q12.2 6p22.3 10q23.33 |
IGFBP2 CDKN2B FTO CDKAL1 HHEX |
rs4402960-T rs10811661-T rs8050136-A rs10946398-C rs5015480-C |
0.32 0.83 0.60 0.32 0.43 |
9 x 10-16 8 x 10-15 1 x 10-12 4 x 10-11 6 x 10-10 |
1.14 [1.11-1.18] 1.20 [1.14-1.25] 1.17 [1.12-1.22] 1.12 [1.08-1.16] 1.13 [1.08-1.17] |
Affymetrix
[393,453] |
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 |
2q37.1 10q21.2 |
ATG16L1 Intergenic |
rs2241880-G rs224136-? |
0.55 0.19 |
1 x 10-13 1 x 10-10 |
1.45 [1.27-1.64] 1.67 [NR] |
Illumina
[304,413] |
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 |
0.36 [NR] kg/m2 per copy in adults
|
Affymetrix
[490,032] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[~520,000]
(pooled) |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[~502,627] |
Gudmundsson April 01, 2007 Nat Genet Genome-wide association study identifies a second prostate cancer susceptibility variant at 8q24
|
Prostate cancer |
1,435 cases,
3,064 controls |
1,210 EA cases, 2,445 EA controls; 373 AA cases, 372 AA controls |
8q24.21 8q24.21 |
Intergenic Intergenic |
HapC rs16901979-A |
0.02 (EA) 0.03 (EA) |
3 x 10-15 (EA) 1 x 10-12 (EA) |
2.10 [1.75-2.53] (EA) 1.79 [1.53-2.11] (EA) |
Illumina
[316,515] |
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] |
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 |
Intergenic |
rs6983267-G |
0.5 |
9 x 10-13 |
1.26 [1.13-1.41] |
Illumina
[538,548] |
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 |
rs4129148-C |
NR |
4 x 10-7 |
3.23 [2.04-5.15] (homozygote) |
Affymetrix
[439,511] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[428,867] |
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 |
5p13.1 |
Intergenic |
rs1373692-? |
0.59 |
2 x 10-12 |
1.46 [NR] |
Illumina
[302,451] |
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 |
Intergenic Intergenic Intergenic ZFP64 SUSD1 |
rs4363506-? rs16984239-? rs12680546-? rs6013382-? rs2782931-? |
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 |
1.90 [1.50-2.40] 2.10 [1.50-3.00] 1.67 [1.25-2.00] 1.43 [1.11-1.67] 1.11 [0.91-1.43] |
Illumina
[549,062] |
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 |
8q24.11 10q23.33 |
SLC30A8 HHEX |
rs13266634-C rs1111875-G |
0.3 0.4 |
6 x 10-8 3 x 10-6 |
1.18 [0.69-1.67] 1.19 [0.82-1.56] |
Illumina
[392,935] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[116,204] (pooled) |
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) |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[639,401] |
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 1p31 |
IL23R IL23R |
rs7517847-C rs11209026-A |
0.56 0.93 |
4 x 10-13 4 x 10-11 |
1.61 [1.35-1.92] 3.84 [2.33-6.66] (non-Jewish) |
Illumina
[308,332] |
Papassotiropoulos October 20, 2006 Science Common Kibra alleles are associated with human memory performance
|
Memory performance |
341 individuals |
680 individuals |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[178,390] |
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 |
1.60 [0.71-3.61] |
Affymetrix
[97,824] |
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 |
2.50 [1.67-3.33] 2.00 [1.43-2.50] 5.00 [2.00-12.50] |
Illumina
[408,803] |
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 |
4.90 - 7.9 [NR] msec difference between homozygotes |
Affymetrix
[88,500] |
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 |
NA |
NA |
NA |
NA |
NS |
NA |
Affymetrix
[86,604] |
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] |
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 |
4.60 [2.0-11] |
Affymetrix
[103,611] |