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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
01/14/15 Liang Y
June 18, 2014
PLoS One
Genetic variations affecting serum carcinoembryonic antigen levels and status of regional lymph nodes in patients with sporadic colorectal cancer from Southern China.
Elevated serum carcinoembryonic antigen levels 1,999 Chinese ancestry individuals NA 9q34.2 ABO ABO rs8176741-? missense 2 x 10-24 NR Illumina
[709,211] (Imputed)
N
12/10/14 Shin SY
May 11, 2014
Nat Genet
An atlas of genetic influences on human blood metabolites.
Blood metabolite levels 7,824 European ancestry individuals NA 9q34.2 ABO ABO - SURF6 rs651007-T 0.21 6 x 10-20 (ADpSGEGDFXAEGGGVR) .065 [0.051-0.079] unit increase Illumina & Affymetrix
[2.1 million] Imputed
N
12/10/14 " Blood metabolite ratios Up to 5,591 European ancestry individuals Up to 1,767 European ancestry individuals 9q34.2 ABO ABO - SURF6 rs649129-T 0.22 9 x 10-37 (ADSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR) .085 [0.071-0.099] unit decrease Illumina & Affymetrix
[2.1 million] Imputed
N
9q34.2 ABO ABO - SURF6 rs495828-T 0.22 6 x 10-34 (DSGEGDFXAEGGGVR/ADpSGEGDFXAEGGGVR) .088 [0.074-0.102] unit decrease
9q34.2 ABO ABO - SURF6 rs579459-T 0.79 1 x 10-28 (ADpSGEGDFXAEGGGVR/X-14304--leucylalanine) .124 [0.1-0.15] unit decrease
10/28/14 Rueedi R
February 20, 2014
PLoS Genet
Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.
Urinary metabolites (H-NMR features) 835 European ancestry individuals 601 Brazilian individuals 9q34.2 ABO ABO - SURF6 rs579459-T 0.27 2 x 10-32 (5.1825, Unknown) .53 [NR] unit increase Illumina
[713,870] (Imputed)
N
9q34.2 ABO ABO - SURF6 rs579459-T 0.27 1 x 10-28 (2.0525, Unknown) .49 [NR] unit increase
9q34.2 ABO ABO rs657152-C intron 0.39 1 x 10-19 (1.2975, Unknown) .34 [NR] unit increase
9q34.2 ABO ABO rs687289-G intron 0.37 1 x 10-12 (4.2375, Unknown) .27 [NR] unit increase
9q34.2 ABO ABO rs687289-G intron 0.37 2 x 10-12 (5.1625, Unknown) .27 [NR] unit decrease
9q34.2 ABO ABO rs8176749-C cds-synon 0.07 4 x 10-12 (5.2625, Unknown) .48 [NR] unit increase
08/02/14 Zhou L
December 30, 2013
PLoS One
A genome wide association study identifies common variants associated with lipid levels in the Chinese population.
Lipid traits 3,451 Han Chinese ancestry individuals 8,830 Han Chinese ancestry individuals 9q34.2 ABO ABO rs507666-A intron 0.23 2 x 10-11 (LDL) .073 [0.044-0.102] mmol/L increase Illumina and Affymetrix
[up to 2,249,917] (imputed)
N
9q34.2 ABO ABO rs507666-A intron 0.23 4 x 10-11 (TC) .015 [0.0091-0.0209] mmol/L increase
07/23/14 Dichgans M
November 21, 2013
Stroke
Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Coronary artery disease 33,398 cases, 75,726 controls NA 9q34.2 ABO ABO - SURF6 rs579459-C NR 2 x 10-7 1.1 [1.06-1.14] Illumina
[575,000] (imputed)
N
07/23/14 " Coronary artery disease or ischemic stroke 12,389 Ischemic stroke cases, 22,233 Coronary artery disease cases, ~ 88,766 controls NA 9q34.2 ABO ABO - SURF6 rs579459-? 2 x 10-9 NR Affymetrix & Illumina
[up to 2.5 million] (imputed)
N
07/23/14 " Coronary artery disease or large artery stroke 2,167 Large artery stroke cases, 22,233 Coronary artery disease cases, ~ 75,921 controls NA 9q34.2 ABO ABO - SURF6 rs579459-? 3 x 10-8 NR Affymetrix & Illumina
[up to 2.5 million] (imputed)
N
05/12/14 Willer CJ
October 06, 2013
Nat Genet
Discovery and refinement of loci associated with lipid levels.
Cholesterol, total 94,595 European ancestry individuals 93,982 European ancestry individuals 9q34.2 ABO ABO - SURF6 rs9411489-T* 0.21 3 x 10-35 .069 [NR] unit increase NR (Imputed) N
05/12/14 " LDL cholesterol 94,595 European ancestry individuals 93,982 European ancestry individuals 9q34.2 ABO ABO - SURF6 rs9411489-T* 0.21 2 x 10-41 .077 [NR] unit increase NR (Imputed) N
05/01/14 Li J
October 05, 2013
BMC Genomics
Genome-wide association study on serum alkaline phosphatase levels in a Chinese population.
Serum alkaline phosphatase levels 1,452 Han Chinese ancestry individuals 8,830 Han Chinese ancestry individuals 9q34.2 ABO ABO rs8176720-C cds-synon 0.452 3 x 10-21 .041 [0.033-0.049] U/L increase Affymetrix
[658,288]
N
9q34.2 ABO ABO rs657152-T intron 0.46 4 x 10-8 .062 [NR] U/L decrease
11/20/13 Band G
May 23, 2013
PLoS Genet
Imputation-based meta-analysis of severe malaria in three African populations.
Malaria 5,425 African ancestry cases, 6,891 African ancestry controls NA 9q34.2 ABO ABO rs8176722-A intron NR 9 x 10-10 1.28 [1.19-1.39] Illumina
[1.3 million] (Imputed)
N
09/21/13 Tang W
May 05, 2013
Genet Epidemiol
A genome-wide association study for venous thromboembolism: the extended cohorts for heart and aging research in genomic epidemiology (CHARGE) consortium.
Venous thromboembolism 1,618 European ancestry cases, 42,881 European ancestry controls 3,231 European ancestry cases, 3,536 European ancestry controls 9q34.2 ABO ABO rs687621-G intron 0.65 2 x 10-52 1.55 [1.47-1.64] Illumina & Affymetrix
[2,543,885] (Imputed)
N
09/14/13 Zhao SX
April 29, 2013
Hum Mol Genet
Robust evidence for five new Graves' disease risk loci from a staged genome-wide association analysis.
Graves' disease 1,442 Han Chinese ancestry cases, 1,468 Han Chinese ancestry controls 6,358 Han Chinese ancestry cases, 6,722 Han Chinese ancestry controls 9q34.2 ABO ABO rs505922-? intron 0.53 2 x 10-10 1.14 [1.1-1.19] Illumina
[483,947]
N
05/14/13 Porcu E
February 07, 2013
PLoS Genet
A meta-analysis of thyroid-related traits reveals novel loci and gender-specific differences in the regulation of thyroid function.
Thyroid hormone levels up to 14,459 European ancestry females, up to 10,936 European ancestry males, up to 433 Old Order Amish females, up to 592 Old Order Amish males NA 9q34.2 ABO ABO rs657152-A intron 0.343 4 x 10-10 (TSH) .058 [0.04-0.076] unit increase Illumina, Affymetrix
[~2.5 Million] (Imputed)
N
9q34.2 ABO ABO rs657152-A intron 0.343 1 x 10-6 (TSH - Males) .067 [0.04-0.094] unit increase
04/11/13 He M
January 07, 2013
Gut
A genome wide association study of genetic loci that influence tumour biomarkers cancer antigen 19-9, carcinoembryonic antigen and α fetoprotein and their associations with cancer risk.
Tumor biomarkers 3,451 Han Chinese ancestry individuals 10,326 Chinese ancestry individuals 9q34.2 ABO ABO rs8176749-T cds-synon 0.18 7 x 10-105 (CEA) .205 [0.18-0.23] ng/ml increase Illumina & Affymetrix
[NR] imputed
N
03/20/13 Williams FM
January 01, 2013
Ann Neurol
Ischemic stroke is associated with the ABO locus: the EuroCLOT study.
End-stage coagulation 2,100 European ancestry individuals NA 9q34.2 ABO ABO rs643434-G intron 0.656 1 x 10-49 (vWF) .51 [0.44-0.58] unit decrease Illumina
[NR] (imputed)
N
9q34.2 ABO ABO rs505922-T intron 0.68 5 x 10-57 (vWF) .561 [0.49-0.63] unit decrease
9q34.2 ABO ABO - SURF6 rs651007-C 0.81 2 x 10-25 (FVIII) .461 [0.37-0.55] unit decrease
9q34.2 ABO ABO rs8176743-C missense 0.939 2 x 10-17 (vWF) .582 [0.45-0.72] unit decrease
02/21/13 Desch KC
December 24, 2012
Proc Natl Acad Sci U S A
Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.
Coagulation factor levels 3,250 European ancestry individuals, up to 212 individuals NA 9q34.2[rs687289]; 9q34.2[rs8176704] ABO - 3-SNP Haplotype 0.720 2 x 10-138 (rs687289-G, rs8176704-G, rs8176749-C) .34 [NR] lU/dL decrease Illumina
[723,716]
N
9q34.2 ABO, LOC653163, ADAMTS13, OBP2B, OBP2A, C9orf96, LOC286310, SURF6, SURF5 ABO rs687289-T intron 0.751 1 x 10-128 .33 [0.30-0.36] lU/dL increase
9q34.2[rs687289]; 9q34.2[rs8176704] ABO - 3-SNP Haplotype 0.155 4 x 10-98 (rs687289-A, rs8176704-G, rs8176749-C) .36 [NR] lU/dL increase
9q34.2[rs687289]; 9q34.2[rs8176704] ABO - 3-SNP Haplotype 0.0722 7 x 10-50 (rs687289-A, rs8176704-G, rs8176749-T) .36 [NR] lU/dL increase
9q34.2 ABO, LOC653163, ADAMTS13, OBP2B, OBP2A, C9orf96, LOC286310, SURF6, SURF5 ABO rs8176704-A intron NR 4 x 10-34 (Conditioned on rs687289) .34 [NR] lU/dL decrease
03/19/13 van der Harst P
December 05, 2012
Nature
Seventy-five genetic loci influencing the human red blood cell.
Red blood cell traits 62,553 European ancestry individuals, 9,308 South Asian ancestry individuals 63,506 European ancestry individuals 9q34.2 ABO ABO - SURF6 rs579459-T 0.8 9 x 10-18 (EA, RBCC) .021 [0.015-0.027] unit increase Illumina, Affymetrix & Perlegen
[2,711,806] 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 9q34.2 ABO ABO rs657152-A intron 0.254 2 x 10-8 (IL6 ) .04 [NR] pg/mL increase Illumina
[899,892]
N
12/21/12 de Boer RA
October 09, 2012
PLoS One
A genome-wide association study of circulating galectin-3.
Protein biomarker 3,776 European ancestry individuals 3,516 individuals 9q34.2 ABO ABO rs644234-G intron 0.35 4 x 10-47 (Galectin-3) .0684 [0.059-0.078] unit decrease Illumina
[2,269,099] (imputed)
N
11/04/12 Timmann C
August 15, 2012
Nature
Genome-wide association study indicates two novel resistance loci for severe malaria.
Malaria 1,325 African ancestry, 828 African ancestry controls 2,229 African ancestry cases, 3,526 African ancestry controls 9q34.2 ABO ABO rs8176719-G 0.37 4 x 10-21 1.48 [NR] Affymetrix
[4,205,739] (imputed)
N
08/15/12 Tang W
June 14, 2012
Am J Hum Genet
Genetic associations for activated partial thromboplastin time and prothrombin time, their gene expression profiles, and risk of coronary artery disease.
Activated partial thromboplastin time 9,240 European ancestry individuals 2611 European ancestry individuals 9q34.2 ABO, LOC653163, SURF2, SURF4, ADAMTS13, C9orf7 ABO rs687621-A intron NR 9 x 10-100 .817 [0.73-0.90] unit increase Affymetrix & Illumina
[~2.5 million] (imputed)
N
08/15/12 Heit JA
June 05, 2012
J Thromb Haemost
A genome-wide association study of venous thromboembolism identifies risk variants in chromosomes 1q24.2 and 9q.
Venous thromboembolism 1,503 European and other ancestry cases, 1,459 European and other ancestry controls 1,407 cases, 1,418 controls 9q34.2 ABO ABO - SURF6 rs495828-T 0.272 3 x 10-16 1.65 [1.46-1.86] Illumina
[~2.5 million] (imputed)
N
9q34.2 ABO ABO rs2519093-A intron 0.243 8 x 10-16 1.69 [1.48-1.91]
9q34.2 ABO ABO rs8176719-G 0.419 6 x 10-12 1.47 [1.32-1.64]
03/20/12 Tanikawa C
March 04, 2012
Nat Genet
A genome-wide association study identifies two susceptibility loci for duodenal ulcer in the Japanese population.
Duodenal ulcer 1,043 Japanese ancestry cases, 21,694 Japanese ancestry controls 5,992 Japanese ancestry cases, 3,629 Japanese ancestry controls 9q34.2 ABO ABO rs505922-T intron 0.54 1 x 10-10 (Recessive) 1.32 [NR] Illumina
[480,327]
N
02/22/12 Naitza S
January 26, 2012
PLoS Genet
A genome-wide association scan on the levels of markers of inflammation in Sardinians reveals associations that underpin its complex regulation.
Inflammatory biomarkers 4,694 Sardinian individuals 1,392 Sardinian individuals 9q34.2 ABO ABO rs643434-A intron 0.258 9 x 10-25 (IL-6) NR Affymetrix
[~1.9 million] (imputed)
N
11/18/11 Chambers JC
October 16, 2011
Nat Genet
Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Liver enzyme levels (alkaline phosphatase) Up to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals NA 9q34.2 ABO ABO - SURF6 rs579459-T 0.80 3 x 10-123 8.8 [7.40-10.2] % increase Affymetrix, Illumina, and Perlegen
[~2.6 million] (imputed)
N
10/22/11 Germain M
September 27, 2011
PLoS One
Genetics of venous thrombosis: insights from a new genome wide association study.
Venous thromboembolism 1,542 European ancestry cases, 1,110 European ancestry controls NA 9q34.2 ABO ABO rs505922-C intron 0.43 1 x 10-34 1.92 [NR] Illumina
[481,002]
N
10/11/11 Kim YJ
September 11, 2011
Nat Genet
Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.
Metabolite levels 12,545 Korean ancestry individuals Up to 30,395 East Asian ancestry individuals 9q34.2 ABO ABO - SURF6 rs651007-A 0.26 6 x 10-9 (LDL) 2.2778 [1.51-3.05] mg/dL increase Affymetrix
[~2.2 million] (imputed)
N
02/24/12 Suhre K
August 31, 2011
Nature
Human metabolic individuality in biomedical and pharmaceutical research.
Metabolic traits 2,820 European ancestry individuals NA 9q34.2 ABO ABO rs612169-G intron 0.335 9 x 10-40 (SM-8 + 3 other traits) .202 [NR] unit increase Affmyetrix & Illumina
[534,665]
N
09/21/11 Chu X
August 14, 2011
Nat Genet
A genome-wide association study identifies two new risk loci for Graves' disease.
Graves' disease 1,468 Chinese ancestry cases, 1,490 Chinese ancestry controls 3,994 Chinese ancestry cases, 3,510 Chinese ancestry controls 9q34.2 ABO ABO rs505922-T intron 0.53 8 x 10-6 1.13 [1.07-1.20] Illumina
[486,049]
N
05/27/11 Pare G
April 21, 2011
PLoS Genet
Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci.
Soluble ICAM-1 22,435 European ancestry female individuals 9,813 individuals 9q34.2 ABO ABO rs507666-A intron 0.20 3 x 10-91 17.3 [NR] ng/mL decrease Illumina
[334,295]
N
05/25/11 Smith NL
April 21, 2011
Circulation
Genetic predictors of fibrin D-dimer levels in healthy adults.
D-dimer levels 21,052 European ancestry individuals NA 9q34.2 ABO ABO rs687621-G intron 0.317 7 x 10-6 .0284 [NR] % increase Affymetrix & Illumina
[2,522,393] (imputed)
N
04/11/11 Schunkert H
March 06, 2011
Nat Genet
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Coronary heart disease 22,233 European ancestry cases, 64,762 European ancestry controls 56,682 European ancestry cases and controls 9q34.2 ABO ABO - SURF6 rs579459-C 0.21 4 x 10-14 1.1 [1.07-1.13] Affymetrix & Illumina {~2.3 million] (imputed) N
02/23/11 Reilly MP
January 14, 2011
Lancet
Identification of ADAMTS7 as a novel locus for coronary atherosclerosis and association of ABO with myocardial infarction in the presence of coronary atherosclerosis: two genome-wide association studies.
Coronary heart disease 1,808 European ancestry AngCAD cases, 915 European ancestry controls, 4,572 European ancestry AngCAD with MI cases, 2,739 European ancestry AngCAD without MI controls 10,585 European ancestry AngCAD cases, 6,468 European ancestry controls, 1,211 European ancestry AngCAD with MI cases, 905 European ancestry AngCAD without MI controls 9q34.2 ABO ABO rs514659-C intron 0.37 8 x 10-9 (AngCAD/MI) 1.21 [1.13-1.28] Affymetrix & Illumina
[~2.4 million] (imputed)
N
01/25/12 Teslovich TM
August 05, 2010
Nature
Biological, clinical and population relevance of 95 loci for blood lipids.
Cholesterol, total 100,184 European ancestry individuals NA 9q34.2 ABO ABO - SURF6 rs635634-T 0.21 9 x 10-21 2.3 [1.81-2.79] mg/dL increase Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
01/25/12 " LDL cholesterol 95,454 European ancestry individuals NA 9q34.2 ABO ABO - SURF6 rs635634-T 0.22 8 x 10-22 2.05 [1.64-2.46] mg/dL increase Affymetrix, Illumina & Perlegen
[~2.6 million] (imputed)
N
07/01/10 Teupser D
June 07, 2010
Circ Cardiovasc Genet
Genetic regulation of serum phytosterol levels and risk of coronary artery disease.
Phytosterol levels 1,495 European ancestry individuals 2,917 European ancestry individuals 9q34.2 ABO ABO rs657152-T intron 0.383 9 x 10-13 (campesterol) 8 [NR] % increase Affymetrix
[374,370]
N
03/17/10 Qi L
February 22, 2010
Hum Mol Genet
Genetic variants in ABO blood group region, plasma soluble E-selectin levels and risk of type 2 diabetes.
E-selectin levels 501 European ancestry type 2 diabetes female cases, 504 European ancestry female controls 518 European ancestry female individuals 9q34.2 ABO ABO - SURF6 rs651007-T 0.22 2 x 10-82 9.71 [NR] % variance explained Affymetrix
[721,316]
N
03/15/10 Barbalic M
February 18, 2010
Hum Mol Genet
Large-scale genomic studies reveal central role of ABO in sP-selectin and sICAM-1 levels.
Soluble levels of adhesion molecules Up to 9,813 European ancestry individuals NA 9q34.2 ABO ABO - SURF6 rs579459-T NR 2 x 10-41 (P-Selectin) 14 [12.04-15.96] % increase Affymetrix & Illumina
[~2.5 million] (imputed)
N
9q34.2 ABO ABO - SURF6 rs649129-T NR 1 x 10-15 (ICAM) 3.95 [2.99-4.91] % decrease
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 9q34.2 ABO ABO - SURF6 rs495828-T 0.28 4 x 10-59 (ALP) .308 [0.27-0.35] unit decrease Illumina
[561,583]
N
9q34.2 ABO ABO - SURF6 rs495828-T 0.28 1 x 10-11 (Hb) .089 [0.064-0.114] unit decrease
9q34.2 ABO ABO - SURF6 rs495828-T 0.28 6 x 10-10 (Ht) .081 [0.056-0.106] unit decrease
09/04/13 " Mean corpuscular hemoglobin concentration 14,377 Japanese ancestry individuals NA 9q34.2 ABO ABO rs8176746-T missense 0.18 4 x 10-8 .084 [0.055-0.113] unit increase Illumina
[561,583]
N
09/04/13 " Red blood cell count 14,392 Japanese ancestry individuals NA 9q34.2 ABO ABO - SURF6 rs495828-T 0.28 3 x 10-12 .091 [0.066-0.116] unit decrease Illumina
[561,583]
N
02/02/10 Chung CM
January 12, 2010
Pharmacogenomics J
A genome-wide association study identifies new loci for ACE activity: potential implications for response to ACE inhibitor.
Angiotensin-converting enzyme activity 400 Han Chinese ancestry hypertensive cases 623 Han Chinese ancestry hypertensive cases 9q34.2 ABO ABO - SURF6 rs495828-A 0.17 3 x 10-8 4.9 [NR] % variance Illumina
[~550,000]
N
09/28/09 Paterson AD
September 03, 2009
Arterioscler Thromb Vasc Biol
Genome-wide association identifies the ABO blood group as a major locus associated with serum levels of soluble E-selectin.
Soluble E-selectin levels 685 European ancestry individuals with type 1 diabetes 477 European ancestry individuals 9q34.2 ABO ABO - SURF6 rs579459-C 0.20 1 x 10-29 NR Illumina
[~841,000]
N
09/04/09 Amundadottir L
August 02, 2009
Nat Genet
Genome-wide association study identifies variants in the ABO locus associated with susceptibility to pancreatic cancer.
Pancreatic cancer 1,771 European ancestry cases, 1,805 European ancestry controls 2,120 European ancestry cases, 2,127 European ancestry controls 9q34.2 ABO ABO rs505922-C intron 0.35 5 x 10-8 1.2 [1.12-1.28] Illumina
[558,542]
N
03/30/09 Tregouet DA
March 10, 2009
Blood
Common susceptibility alleles are unlikely to contribute as strongly as the FV and ABO loci to VTE risk: results from a GWAS approach.
Venous thromboembolism 419 European ancestry cases, 1,228 European ancestry controls 1,757 European ancestry cases, 1,480 European ancestry controls 9q34.2 ABO ABO rs505922-C intron 0.35 4 x 10-15 1.81 [1.56-2.11] Illumina
[291,872]
N
12/01/08 Yuan X
October 10, 2008
Am J Hum Genet
Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes.
Liver enzyme levels 7,751 European ancestry individuals 1,005 European ancestry individuals, 3,669 Asian Indian ancestry individuals 9q34.2 ABO ABO rs657152-T intron 0.39 2 x 10-30 (ALP) .05 [0.039-0.055] U/L decrease Affymetrix and Illumina
[up to 496,032]
N
11/25/08 Pare G
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 European ancestry female individuals 2,008 European ancestry female individuals 9q34.2 ABO ABO rs507666-G intron 0.20 5 x 10-29 17.73 [NR] umol/L decrease Illumina
[336,108]
N
11/25/08 Melzer D
May 09, 2008
PLoS Genet
A genome-wide association study identifies protein quantitative trait loci (pQTLs).
Protein quantitative trait loci 1,200 European ancestry individuals up to 4,590 European ancestry individuals 9q34.2 ABO ABO rs505922-? intron 0.34 7 x 10-40 (TNFA) NR Illumina
[496,032]
N




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