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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
12/11/14 Hirokawa M
June 11, 2014
Eur J Hum Genet
A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese.
Myocardial infarction 1,666 Japanese ancestry cases, 3,198 Japanese ancestry controls 11,412 Japanese ancestry cases, 28,397 Japanese ancestry controls 12q24.12[rs3782886]; 12q24.12[rs671] ALDH2 - rs3782886-A 0.26 1 x 10-14 1.46 [1.33-1.60] Illumina
[455,781]
N
11/27/14 Wen W
May 26, 2014
Hum Mol Genet
Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.
Body mass index 82,438 East Asian ancestry individuals, 4,301 South East ancestry individuals Up to 47,352 East Asian ancestry individuals 12q24.12 ALDH2 ALDH2 rs671-G missense 0.76 3 x 10-11 .0378 [0.027-0.049] unit increase Affymetrix & Illumina
[~2.5 million] Imputed
N
06/28/14 Quillen EE
November 26, 2013
Am J Med Genet B Neuropsychiatr Genet
ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.
Alcohol consumption (maxi-drinks) 272 Han Chinese ancestry individuals NA 12q24.12 ALDH2 ALDH2 rs671-? missense NR 1 x 10-16 .16 unit increase Illumina
[247,725]
N
06/28/14 " Alcohol dependence 102 Han Chinese ancestry cases, 212 Han Chinese ancestry controls NA 12q24.12 ALDH2 ALDH2 rs671-? missense NR 5 x 10-8 .88 unit increase Illumina
[247,725]
N
06/28/14 " Response to alcohol consumption (flushing response) 108 Han Chinese ancestry cases, 190 Han Chinese ancestry controls NA 12q24.12 ALDH2 ALDH2 rs671-? missense 5 x 10-26 1.81 unit decrease Illumina
[247,725]
N
01/09/13 Traylor M
October 05, 2012
Lancet Neurol
Genetic risk factors for ischaemic stroke and its subtypes (the METASTROKE collaboration): a meta-analysis of genome-wide association studies.
Stroke (ischemic) 12,389 European ancestry cases, 62,004 European ancestry controls 1,322 Pakistani ancestry cases, 1,143 Pakistani ancestry controls, 12,025 European ancestry cases, 27,940 European ancestry controls 12q24.12 ALDH2 ALDH2 rs2238151-T intron 0.66 1 x 10-6 (FS) 1.13 [1.08-1.19] Affymetrix & Illumina
[NR] (imputed)
N
09/18/12 Okada Y
July 15, 2012
Nat Genet
Meta-analysis identifies multiple loci associated with kidney function-related traits in east Asian populations.
Renal function-related traits (sCR) 42,257 East Asian, South Asian, and South East Asian ancestry individuals 19,662 East Asian ancestry individuals 12q24.12 ALDH2 ALDH2 rs671-A missense 0.27 3 x 10-10 .0045 [0.0031-0.0059] mg/dl increase Affymetrix & Illumina
[2,353,587] (imputed)
N
02/23/12 Low SK
January 27, 2012
Hum Mol Genet
Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
Intracranial aneurysm 1,383 Japanese ancestry cases, 5,484 Japanese ancestry controls 1,048 Japanese ancestry cases, 7,212 Japanese ancestry controls 12q24.12 ALDH2 ALDH2 rs671-C missense 0.746 3 x 10-6 1.24 [1.148-1.338] Illumina
[565,149]
N
01/10/12 Tan A
December 30, 2011
Hum Mol Genet
A genome-wide association and gene-environment interaction study for serum triglycerides levels in a healthy Chinese male population.
Triglycerides 1,999 Han Chinese ancestry male individuals 1,496 Han Chinese ancestry male individuals 12q24.12 ALDH2 ALDH2 rs671-? missense NR 2 x 10-6 NR Illumina
[1,940,243] (imputed)
N
11/03/11 Takeuchi F
October 05, 2011
Eur J Hum Genet
Genome-wide association study of coronary artery disease in the Japanese.
Coronary heart disease 806 Japanese ancestry cases, 1,337 Japanese ancestry controls 3,593 Japanese ancestry cases, 6,335 Japanese ancestry controls 12q24.12 ALDH2 ALDH2 rs671-A missense 0.23 2 x 10-34 1.43 [1.35-1.51] Illumina
[451,382]
N
07/13/11 Kato N
May 15, 2011
Nat Genet
Meta-analysis of genome-wide association studies identifies common variants associated with blood pressure variation in east Asians.
Blood pressure 19,608 East Asian ancestry individuals 30,765 East Asian ancestry individuals 12q24.13 RPL6, PTPN11, ALDH2 HECTD4 rs11066280-T intron 0.75 8 x 10-31 (Systolic) 1.56 [1.31-1.81] mm Hg increase Affymetrix & Illumina
[1.7 million] (imputed)
N
07/13/11 " Blood pressure 19,608 East Asian ancestry individuals 30,765 East Asian ancestry individuals 12q24.13 RPL6, PTPN11, ALDH2 HECTD4 rs11066280-T intron 0.75 1 x 10-35 (Diastolic) 1.01 [0.85-1.17] mm Hg increase Affymetrix & Illumina
[1.7 million] (imputed)
N
04/13/11 McKay JD
March 17, 2011
PLoS Genet
A genome-wide association study of upper aerodigestive tract cancers conducted within the INHANCE consortium.
Upper aerodigestive tract cancers 2,091 European ancestry cases, 8,334 European ancestry controls 6,574 European ancestry cases, 7,892 European ancestry controls 12q24.13 ALDH2 NAA25 rs4767364-A intron 0.29 2 x 10-8 1.13 [1.08-1.18] Illumina
[294,620]
N
04/07/11 Takeuchi F
March 01, 2011
Circ J
Confirmation of ALDH2 as a Major locus of drinking behavior and of its variants regulating multiple metabolic phenotypes in a Japanese population.
Drinking behavior 733 Japanese ancestry cases, 729 Japanese ancestry controls 2,794 Japanese ancestry drinkers, 1,521 Japanese ancestry chance drinkers, 1,351 Japanese ancestry non-drinkers 12q24.12 ALDH2, BRAP ALDH2 rs671-? missense 0.75 4 x 10-211 6.25 [5.56-7.14] Illumina
[456,827]
N
03/28/11 Baik I
January 26, 2011
Am J Clin Nutr
Genome-wide association studies identify genetic loci related to alcohol consumption in Korean men.
Alcohol consumption 1,721 Korean ancestry male individuals 1,113 Korean ancestry male individuals 12q24.13 C12orf51,ALDH2 HECTD4 rs2074356-T intron 0.15 9 x 10-59 1.06 [0.94-1.18] unit decrease Affymetrix
[315,914]
N
11/05/13 Kamatani Y
February 07, 2010
Nat Genet
Genome-wide association study of hematological and biochemical traits in a Japanese population.
Hematological and biochemical traits Up to 14,402 Japanese individuals NA 12q24.12 BRAP,ALDH2 BRAP rs3782886-G cds-synon 0.27 5 x 10-9 (ALT) .079 [0.052-0.106] unit decrease Illumina
[561,583]
N
12q24.12 ALDH2 ALDH2 rs671-A missense 0.26 5 x 10-9 (GGT) .123 [0.082-0.164] unit decrease
09/04/13 " Mean corpuscular hemoglobin concentration 14,377 Japanese ancestry individuals NA 12q24.12 ALDH2 ALDH2 rs671-A missense 0.26 7 x 10-10 .083 [0.058-0.108] unit decrease Illumina
[561,583]
N
09/09/09 Cui R
August 18, 2009
Gastroenterology
Functional variants in ADH1B and ALDH2 coupled with alcohol and smoking synergistically enhance esophageal cancer risk.
Esophageal cancer 182 Japanese ancestry cases, 927 Japanese ancestry controls 782 Japanese ancestry cases, 1,898 Japanese ancestry controls 12q24.12 BRAP, ALDH2 ALDH2 rs671-A missense NR 3 x 10-24 1.67 [1.58-1.76] Illumina
[359,195]
N




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