Skip Navigation Genome.gov - National Human Genome Research InstituteGenome.gov - National Human Genome Research InstituteGenome.gov - National Human Genome Research InstituteNational Institutes of Health
   
       Home | About NHGRI | Newsroom | Staff
Research Grants Health Policy & Ethics Educational Resources Careers & Training

Home>About NHGRI>About the Office of the Director>Office of Population Genomics >A Catalog of Published Genome-Wide Association Studies


A Catalog of Published Genome-Wide Association Studies

Note: This catalog is best viewed with a screen resolution of 1280 x 1024 or higher

The genome-wide association study (GWAS) publications listed here include only those attempting to assay at least 100,000 single nucleotide polymorphisms (SNPs) in the initial stage. Publications are organized from most to least recent date of publication, indexing from online publication if available. Studies focusing only on candidate genes are excluded from this catalog. Studies are identified through weekly PubMed literature searches, daily NIH-distributed compilations of news and media reports, and occasional comparisons with an existing database of GWAS literature (HuGE Navigator).

SNP-trait associations listed here are limited to those with p-values < 1.0 x 10-5. Note that we are now including all identified SNP-trait associations meeting this p-value threshhold. Multipliers of powers of 10 in p-values are rounded to the nearest single digit; odds ratios and allele frequencies are rounded to two decimals. Standard errors are converted to 95 percent confidence intervals where applicable. Allele frequencies, p-values, and odds ratios derived from the largest sample size, typically a combined analysis (initial plus replication studies), are recorded below if reported; otherwise statistics from the initial study sample are recorded. Odds ratios < 1 in the original paper are converted to OR > 1 for the alternate allele. Where results from multiple genetic models are available, we prioritized effect sizes (OR's or beta-coefficients) as follows: 1) genotypic model, per-allele estimate; 2) genotypic model, heterozygote estimate, 3) allelic model, allelic estimate.

Gene regions corresponding to SNPs were identified from the UCSC Genome Browser. Gene names are those reported by the authors in the original paper. Only one SNP within a gene or region of high linkage disequilibrium is recorded unless there was evidence of independent association.

Occasionally the term "pending" is used to denote one or more studies that we identified as an eligible GWAS, but for which SNP information has not yet been extracted; studies of CNVs are also noted as pending.

For questions or comments about this page, send an e-mail to: gwas_table@mail.nih.gov

Search By:

(string search)

or


(hold Ctrl-key when selecting multiple entries)

                  
 
As of 01/21/09, this table includes 245 publications and 1114 SNPs.
Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Size		 Replication Sample Size Region Reported Gene(s) Strongest SNP-Risk Allele Risk Allele Frequency in Controls P-value OR or beta-coefficient and [95% CI] Platform
[SNPs passing QC]		 CNV
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 Pending Pending Pending Pending Pending Pending Illumina
[495,343]		 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 119 cases, 135 controls 583 cases, 1,357 family members Pending Pending Pending Pending Pending Pending Affymetrix
[223,922]		 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 386 individuals 1,054 individuals Pending Pending Pending Pending Pending Pending 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 Pending Pending Pending Pending Pending Pending 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 Pending Pending Pending Pending Pending Pending Illumina
[532,000]		 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, 1,352 controls NR Pending Pending Pending Pending Pending Pending Illumina
[291,119]		 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
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
" 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
LRRC16
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
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
01/14/09 " 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
01/14/09 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
01/14/09 " 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
01/14/09 " 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
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
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
NALP11
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
FOXO3A
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
BAT3MSH5
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 		Cutaneous basal cell carcinoma 930 cases, 33,117 controls 1,216 cases, 2,844 controls 1p36.13
1q42.13		 PAD14, PAD16,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
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 		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
01/15/09 " 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
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		 4 x 10-186
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 1,098 cases, 1,267 controls 4,387 cases, 6,209 controls 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
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
17q25.3
19p13.2
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
c17orf62
ANGPTL6
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-?
rs9303029-?
rs8109578-?
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 (Free IGF1)
4 x 10-7 (TSH)
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
14q23.12
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
ANKS1, 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 		Early onset extreme obesity 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
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
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 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
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 " 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 17q21 Intergenic 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		 MHC
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
KIA1109,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 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
11/25/08 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 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/B
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
0.60
0.32
NR
0.43
0.30
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 1,435 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
0.30
0.40		 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
 
Top of page

Last Updated: January 21, 2009
PrivacyCopyrightContactAccessibilitySite MapStaff DirectoryFOIAHome Department of Health and Human Services  National Institutes of Health  USA.gov