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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. 


 

Sound file Current uses of and future directions for the Genome-Wide Association Studies Catalog
On Thursday, July 18th, 2013, the Division of Genomic Medicine held a webinar to highlight current uses and explore  priorities and future directions for the GWAS catalog. See archived video and presentations.

The NHGRI GWAS Catalog, a curated resource of SNP-trait associationsPDF file
Click here to read our recent article from the Nucleic Acids Research Database Issue.

Potential etiologic and functional implications of genome-wide association loci for human diseases and traitsPDF file
Click here to read our Proceedings of the Academy of Sciences (PNAS) article on catalog methods and analysis.

 

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 listed here 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. Customized gene-based arrays without a clearly described GWAS backbone, including those selected to replicate published GWAS findings (e.g., Metabochip, Immunochip, etc.) are not eligible.  Publications are organized from most to least recent date of publication, indexing from online publication if available. 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).

Gene names and risk alleles 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

How to cite the NHGRI GWAS Catalog:
Hindorff LA, MacArthur J (European Bioinformatics Institute), Morales J (European Bioinformatics Institute), Junkins HA, Hall PN, Klemm AK, and Manolio TA. A Catalog of Published Genome-Wide Association Studies. Available at: www.genome.gov/gwastudies. Accessed [date of access].

How to cite the NHGRI GWAS Catalog paper:
Welter D, MacArthur J, Morales J, Burdett T, Hall P, Junkins H, Klemm A, Flicek P, Manolio T, Hindorff L, and Parkinson H. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Research, 2014, Vol. 42 (Database issue): D1001-D1006.

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

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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
06/26/13 Sherva R
March 24, 2013
Alzheimers Dement
Genome-wide association study of the rate of cognitive decline in Alzheimer's disease.
Alzheimer's disease (cognitive decline) 303 European ancestry cases   17q23.2 BCAS3 BCAS3 rs72832584-? intron 0.05 1 x 10-11 .3 unit decrease Illumina
[NR] (Imputed)
N
03/15/13 Kottgen A
December 23, 2012
Nat Genet
Genome-wide association analyses identify 18 new loci associated with serum urate concentrations.
Urate levels 49,825 European ancestry males, 60,522 European ancestry females Up to 32,813 European ancestry individuals 17q23.2 BCAS3, C17orf82 BCAS3 rs2079742-T intron 0.85 1 x 10-8 .043 [0.027-0.059] mg/dl increase Affymetrix, Illumina, Perlegen
[2,450,547] (imputed)
N
04/09/13 Comuzzie AG
December 04, 2012
PLoS One
Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.
Obesity-related traits 815 Hispanic children from 263 families NA 17q23.2 BCAS3 BCAS3 rs17513268-G intron 0.084 7 x 10-6 (Eotaxin ) .03 [NR] pg/mL increase Illumina
[899,892]
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 (BUN) 39,717 East Asian ancestry individuals 17,461 East Asian ancestry individuals 17q23.2 BCAS3 BCAS3 rs11868441-G intron 0.75 2 x 10-9 .0059 [0.0039-0.0079] mg/dl increase Affymetrix & Illumina
[2,281,523] (imputed)
N
09/18/12 " Renal function-related traits (eGRFcrea) 42,451 East Asian, South Asian, and South East Asian ancestry individuals 19,636 East Asian ancestry individuals 17q23.2 BCAS3 BCAS3 rs9895661-C intron 0.52 5 x 10-11 .0051 [0.0035-0.0067] ml/min/1.73m2 decrease Affymetrix & Illumina
[2,353,587] (imputed)
N
09/18/12 " Renal function-related traits (sCR) 42,257 East Asian, South Asian, and South East Asian ancestry individuals 19,662 East Asian ancestry individuals 17q23.2 BCAS3 BCAS3 rs9895661-C intron 0.52 7 x 10-11 .0045 [0.0031-0.0059] mg/dl increase Affymetrix & Illumina
[2,353,587] (imputed)
N
08/07/12 Kennedy RB
May 19, 2012
Hum Genet
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients.
Immune reponse to smallpox (secreted IL-2) Up to 512 European ancestry individuals, up to 199 African American individuals NA 17q23.2 BCAS3 BCAS3 rs7224438-G intron 4 x 10-7 (AA) NR Illumina
[NR]
N
07/12/10 Ramdas WD
June 10, 2010
PLoS Genet
A genome-wide association study of optic disc parameters.
Vertical cup-disc ratio 7,360 European ancestry individuals 4,455 European ancestry individuals 17q23.2 BCAS3 BCAS3 rs8068952-G intron 0.23 3 x 10-8 .01 [0.008-0.016] mm2 decrease Affymetrix and Illumina
[~2.5 million] (imputed)
N
05/05/10 Kottgen A
April 11, 2010
Nat Genet
New loci associated with kidney function and chronic kidney disease.
Chronic kidney disease Up to 67,093 European ancestry individuals Up to 22,982 European ancestry individuals 17q23.2 BCAS3,TBX2,C17orf82 BCAS3 rs9895661-C intron 0.19 1 x 10-15 (eGFRcrea) .01 [0.007-0.015] ml/min/1.73 m2 decrease Affymetrix & Illumina
[~2.5 million] (imputed)
N
11/25/08 Gudbjartsson DF
April 06, 2008
Nat Genet
Many sequence variants affecting diversity of adult human height.
Height 30,968 European ancestry individuals 8,541 European ancestry individuals 17q23.2 BCAS3, NACA2, TBX2, TBX4 C17orf82 - TBX4 rs757608-T 0.35 6 x 10-8 4.4 [2.83-5.97] % s.d. taller Illumina and Affymetrix
[up to 304,226]
N




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