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Division of Genomic Medicine

A Catalog of Published Genome-Wide Association Studies


Update (5/12/15): The NHGRI-EBI GWAS Catalog has moved to the European Molecular Biology Laboratory-European Bioinformatics Institute (EMBL-EBI) at  http://www.ebi.ac.uk/gwas. Users may now find the new search interface and updated content at this site.  Questions about the GWAS Catalog may be directed to gwas-info@ebi.ac.uk.

Why has the catalog moved to EMBL-EBI?
From September 2010 to the present, delivery and development of the Catalog has been a collaborative project between EMBL-EBI and NHGRI. In March 2015 the Catalog infrastructure moved to EMBL-EBI to enable delivery of an improved user interface, including ontology driven Catalog searching, and new curatorial infrastructure, supporting improved QC processes. Catalog content available through this original GWAS Catalog website was last updated on February 20th 2015 with all previous and updated content available at EMBL-EBI. 


The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog).
Read our recent article from Nucleic Acids Research.

Published Genome-Wide Associations
Credit: Darryl Leja and Teri Manolio, NHGRI; Tony Burdett, Dani Welter, and Helen Parkinson, EBI

 
An archived tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File
 

The genome-wide association study (GWAS) publications in the Catalog include a primary GWAS analysis, defined as array-based genotyping and analysis of 100,000+ pre-QC SNPs selected to tag variation across the genome and without regard to gene content.  GWAS data from published studies which are incorporated into new GWAS analyses are eligible, provided they meet the other criteria.  Studies imputing sequencing data to genotyping arrays are eligible as long as the arrays include sufficient genome-wide coverage so that the post-imputation analysis meets the definition of a GWAS analysis, as described above. The scope of the GWAS Catalog is currently being expanded to include studies of large-scale targeted/non-genome-wide arrays, including the Metabochip, Immunochip and Exome arrays. This is currently in a pilot phase where prioritization of targeted and exome array studies for inclusion in the Catalog is by 1) relevance of the trait analyzed 2) user request.  

How to cite the NHGRI GWAS Catalog:
MacArthur J, Bowler E, Cerezo M, Gil L, Hall P, Hastings E, Junkins H, McMahon A, Milano A, Morales J, Pendlington Z, Welter D, Burdett T, Hindorff L, Flicek P, Cunningham F, and Parkinson H. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Research, 2017, Vol. 45 (Database issue): D896-D901.

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

 

 

 

 





Notice: The updated Catalog content may now be searched at http://www.ebi.ac.uk/gwas/.

An archived, tab-delimited file of the GWAS Catalog content prior to the EBI transition is available here: Tab Delimited File

Date Added to Catalog (since 11/25/08) First Author/Date/ Journal/Study Disease/Trait Initial
Sample Description
Replication Sample Description Region Reported Gene(s) Mapped Gene(s) Strongest SNP-Risk Allele Context Risk Allele Frequency in Controls P-value
OR or beta-coefficient and [95% CI]
Platform
[SNPs passing QC]
CNV
11/26/14 Armstrong DL
May 29, 2014
Genes Immun
GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.
Systemic lupus erythematosus 725 European ancestry cases, 2,438 European ancestry controls NA 2q32.3 STAT4 STAT4 rs7574865-T intron 0.33 5 x 10-9 1.5083 [1.41-1.62] Illumina
[NR]
N
08/05/14 Okada Y
December 25, 2013
Nature
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
Rheumatoid arthritis up to 14,361 European ancestry cases, up to 42,923 European ancestry controls, up to 4,873 East Asian ancestry cases, up to 17,642 East Asian ancestry controls up to 3,775 European ancestry cases, up to 5,801 European ancestry controls, up to 6,871 East Asian ancestry cases, up to 6,392 East Asian ancestry controls 2q32.3 STAT4 STAT4 rs11889341-T intron 0.25 4 x 10-19 1.13 [1.10-1.17] Affymetrix & Illumina
[up to 9,739,303] (Imputed)
N
2q32.3 STAT4 STAT4 rs11889341-T intron 0.23 1 x 10-12 (EA) 1.12 [1.09-1.16]
2q32.3 STAT4 STAT4 rs11889341-T intron 0.3 2 x 10-8 (East Asian) 1.16 [1.10-1.22]
04/04/14 Li Y
October 06, 2013
Nat Genet
A genome-wide association study in Han Chinese identifies a susceptibility locus for primary Sjögren's syndrome at 7q11.23.
Sjögren's syndrome 542 Han Chinese ancestry cases, 1,050 Han Chinese ancestry controls 1,303 Han Chinese ancestry cases, 2,727 Han Chinese ancestry controls 2q32.3 STAT4 STAT4 rs10168266-T intron 0.3357 2 x 10-17 1.44 [1.32-1.57] Affymetrix
[556,134]
N
12/11/13 Martin JE
June 10, 2013
Hum Mol Genet
A systemic sclerosis and systemic lupus erythematosus pan-meta-GWAS reveals new shared susceptibility loci.
Systemic lupus erythematosus and Systemic sclerosis up to 2,761 European ancestry systemic sclerosis cases, 769 European ancestry systemic lupus erythematosus cases, 7,381 European ancestry controls up to 1,578 European ancestry systemic sclerosis cases, 1,727 European ancestry systemic lupus erythematosus cases, 6,893 European ancestry controls 2q32.3 STAT4 STAT4 rs7601754-? intron NR 3 x 10-11 1.32 [NR] Illumina
[NR]
N
03/27/13 Kirino Y
January 06, 2013
Nat Genet
Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
Behcet's disease 435 Turkish uveitis cases, 780 Turkish without uveitis cases, 1,278 Turkish controls 355 Turkish uveitis cases, 483 Turkish without uveitis cases, 601 Turkish controls, up to 612 Japanese ancestry cases, up to 740 Japanese ancestry controls 2q32.3 STAT4 STAT4 rs7574070-A intron 0.421 1 x 10-9 1.27 [1.17-1.37] Illumina
[779,465] (imputed)
N
02/21/13 Yang W
December 27, 2012
Am J Hum Genet
Meta-analysis followed by replication identifies loci in or near CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus in Asians.
Systemic lupus erythematosus 1,656 Han Chinese ancestry cases, 3,394 Han Chinese ancestry controls 3,256 Han Chinese ancestry cases, 5,667 Han Chinese ancestry controls, 453 Thai ancestry cases, 963 Thai ancestry controls 2q32.3 STAT4 STAT4 rs7574865-T intron 0.34 1 x 10-21 1.63 Illumina
[2,100,739] (imputed)
N
03/11/13 Jiang DK
December 16, 2012
Nat Genet
Genetic variants in STAT4 and HLA-DQ genes confer risk of hepatitis B virus-related hepatocellular carcinoma.
Hepatocellular carcinoma (hepatitis B virus related) 1,161 Chinese ancestry cases, 1,353 Chinese ancestry controls 4,319 Chinese ancestry cases, 4,966 Chinese ancestry controls 2q32.3 STAT4 STAT4 rs7574865-G intron 0.67 2 x 10-10 1.21 [1.14-1.28] Illumina (1,672,517) imputed N
12/16/12 Hou S
December 06, 2012
Arthritis Rheum
Identification of a susceptibility locus in STAT4 for Behçet's disease in Han Chinese in a genome-wide association study.
Behcet's disease 147 Han Chinese ancestry cases, 951 Han Chinese ancestry controls 554 Han Chinese ancestry cases, 1,159 Han Chinese ancestry controls 2q32.3 STAT4 STAT4 rs897200-A intron 0.529 6 x 10-9 1.45 [1.30-1.60] Affyemtrix
[661,736]
N
2q32.3[rs897200]; 2q32.3[rs7572482] STAT4 - 3-SNP Haplotype NR 4 x 10-8 rs897200-A, rs7572482-T, rs7574070-T 1.44 [1.3-1.6]
02/12/13 Jostins L
November 01, 2012
Nature
Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Inflammatory bowel disease 12,924 European ancestry cases, 21,442 European ancestry controls 25,683 European ancestry cases, 17,015 European ancestry controls 2q32.3 STAT1,STAT4 STAT4 rs1517352-C intron 0.6 3 x 10-11 1.077 [1.046-1.109] Affymetrix & Illumina
[1.23 million](imputed)
N
01/09/13 Lee YH
October 07, 2012
Mol Biol Rep
Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.
Systemic lupus erythematosus 1,527 European ancestry cases, 3,421 European ancestry controls, NA 2q32.3 STAT4 STAT4 rs7574865-T intron NR 4 x 10-14 1.477 [1.335-1.634] Illumina
[737,984]
N
11/29/12 Nakamura M
September 18, 2012
Am J Hum Genet
Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population.
Primary biliary cirrhosis 487 Japanese ancestry cases, 476 Japanese ancestry controls 787 Japanese ancestry cases, 615 Japanese ancestry controls 2q32.3 STAT4 STAT4 rs7574865-T intron NR 1 x 10-6 1.35 [1.19-1.52] Affymetrix
[421,245]
N
08/12/11 Gorlova O
July 14, 2011
PLoS Genet
Identification of novel genetic markers associated with clinical phenotypes of systemic sclerosis through a genome-wide association strategy.
Systemic sclerosis 2,296 European ancestry cases, 5,172 European ancestry controls 3,175 European ancestry cases, 4,210 European ancestry controls 2q32.3 STAT4 STAT4 rs3821236-? intron NR 9 x 10-8 (IcSSc) 1.31 [1.19-1.48] Illumina
[NR] (imputed)
N
08/03/11 Allanore Y
July 07, 2011
PLoS Genet
Genome-wide scan identifies TNIP1, PSORS1C1, and RHOB as novel risk loci for systemic sclerosis.
Systemic sclerosis 564 European ancestry cases, 1,776 European ancestry controls 1,682 European ancestry cases, 3,926 European ancestry controls 2q32.3 STAT4 STAT4 rs7574865-T intron 0.22 2 x 10-13 1.38 [1.27-1.50] Illumina
[489,814]
N
04/12/11 Mells GF
March 13, 2011
Nat Genet
Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis.
Primary biliary cirrhosis 1,840 European ancestry cases, 5,163 European ancestry controls and (Liu et al) 620 European ancestry cases, 2,514 European ancestry controls 2q32.2 STAT4 NAB1 rs10931468-A intron 0.12 2 x 10-19 1.5 [1.37-1.64] Illumina
[507,467]
N
04/07/11 Chung SA
March 03, 2011
PLoS Genet
Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
Systemic lupus erythematosus 811 anti-dsDNA positive European ancestry cases, 906 anti-dsDNA negative European ancestry cases, 4,813 European ancestry controls NA 2q32.3 STAT4 STAT4 rs7574865-T intron 0.23 2 x 10-20 (anti-dsDNA +) 1.77 [1.57-1.99] Illumina
[421,318] (imputed)
N
2q32.3 STAT4 STAT4 rs7574865-T intron 0.28 8 x 10-6 (case-only) 1.41 [1.21-1.63]
04/06/11 Zhernakova A
February 24, 2011
PLoS Genet
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
Celiac disease and Rheumatoid arthritis 4,533 European ancestry celiac disease cases, 5,539 European ancestry rheumatoid arthritis cases, 27,981 European ancestry controls 2,169 European ancestry celiac disease cases, 2,845 European ancestry rheumatoid arthritis cases, European ancestry 7,199 controls 2q32.3 STAT4 STAT4 rs7574865-T intron NR 4 x 10-10 NR Illumina
[472,854]
N
06/13/10 Kochi Y
May 09, 2010
Nat Genet
A regulatory variant in CCR6 is associated with rheumatoid arthritis susceptibility.
Rheumatoid arthritis 2,303 Japanese ancestry cases, 3,380 Japanese ancestry controls 4,768 Japanese ancestry cases, 17,359 Japanese ancestry controls 2q32.3 STAT4 STAT4 rs7574865-T intron 0.33 2 x 10-6 1.17 [1.10-1.25] Illumina
[393,217]
N
06/13/10 Stahl EA
May 09, 2010
Nat Genet
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
Rheumatoid arthritis 5,539 European ancestry cases, 20,169 European ancestry controls 6,768 European ancestry cases, 8,806 European ancestry controls 2q32.3 STAT4 STAT4 rs7574865-T intron 0.22 3 x 10-7 1.16 [1.10-1.23] Affymetrix & Illumina
[~2,716,259] (imputed)
N
05/03/10 Radstake TR
April 11, 2010
Nat Genet
Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus.
Systemic sclerosis 2,296 European ancestry cases, 5,171 European ancestry controls 2,753 European ancestry cases, 4,569 European ancestry controls 2q32.3 STAT4 STAT4 rs3821236-A intron 0.20 3 x 10-9 1.3 [1.19-1.41] Illumina
[279,621]
N
11/09/09 Han JW
October 18, 2009
Nat Genet
Genome-wide association study in a Chinese Han population identifies nine new susceptibility loci for systemic lupus erythematosus.
Systemic lupus erythematosus 1,047 Han Chinese ancestry cases, 1,205 Han Chinese ancestry controls 3,152 Han Chinese ancestry cases, 7,050 Han Chinese ancestry controls 2q32.3 STAT4 STAT4 rs7574865-A intron 0.33 5 x 10-42 1.51 [1.43-1.61] Illumina
[493,955]
N
11/25/08 Graham RR
August 01, 2008
Nat Genet
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Systemic lupus erythematosus 431 European ancestry cases, 2,155 European ancestry controls 447 European ancestry trios, 293 trios 2q32.3 STAT4 STAT4 rs3821236-? intron 0.19 8 x 10-11 1.49 [NR] Affymetrix
[313,238]
N
11/25/08 Hom G
January 20, 2008
N Engl J Med
Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX.
Systemic lupus erythematosus 1,311 European ancestry cases, 3,340 European ancestry controls 793 European ancestry cases, 857 European ancestry controls 2q32.3 STAT4 STAT4 rs7574865-T intron 0.23 9 x 10-14 NR Illumina
[502,033]
N




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Catalog Data Last Updated: February 20, 2015
Web Page Text Last Updated: September 16, 2015