The Gene, Environment Association Studies Consortium (GENEVA): Maximizing the Knowledge Obtained from GWAS by Collaboration Across Studies of Multiple Conditions

被引：114

作者：

Cornelis, Marilyn C. ^{[1
]}

Agrawal, Arpana ^{[2
]}

Cole, John W. ^{[3
]}

Hansel, Nadia N. ^{[4
]}

Barnes, Kathleen C. ^{[4
]}

Beaty, Terri H. ^{[5
]}

Bennett, Siiri N. ^{[6
]}

Bierut, Laura J. ^{[2
]}

Boerwinkle, Eric ^{[7
]}

Doheny, Kimberly F. ^{[8
]}

Feenstra, Bjarke ^{[9
]}

Feingold, Eleanor ^{[10
]}

Fornage, Myriam ^{[11
]}

Haiman, Christopher A. ^{[12
]}

Harris, Emily L. ^{[13
]}

Hayes, M. Geoffrey ^{[14
]}

Heit, John A. ^{[15
]}

Hu, Frank B.

Kang, Jae H. ^{[16
]}

Laurie, Cathy C. ^{[6
]}

Ling, Hua ^{[8
]}

Manolio, Teri A. ^{[17
]}

Marazita, Mary L. ^{[18
]}

Mathias, Rasika A. ^{[4
]}

Mirel, Daniel B. ^{[19
]}

Paschall, Justin ^{[20
]}

Pasquale, Louis R. ^{[16
]}

Pugh, Elizabeth W. ^{[8
]}

Rice, John P. ^{[2
]}

Udren, Jenna ^{[6
]}

van Dam, Rob M.

Wang, Xiaojing ^{[18
]}

Wiggs, Janey L. ^{[16
]}

Williams, Kayleen ^{[6
]}

Yu, Kai ^{[21
]}

机构：

[1] Harvard Univ, Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA

[2] Washington Univ, Sch Med, Dept Psychiat, St Louis, MO 63110 USA

[3] Univ Maryland, Sch Med, Baltimore, MD 21201 USA

[4] Johns Hopkins Univ, Sch Med, Baltimore, MD USA

[5] Johns Hopkins Univ, Bloomberg Sch Publ Hlth, Baltimore, MD USA

[6] Univ Washington, Collaborat Hlth Studies Coordinating Ctr, Seattle, WA 98195 USA

[7] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX USA

[8] Johns Hopkins Univ, Sch Med, Ctr Inherited Dis Res, Baltimore, MD USA

[9] Statens Serum Inst, Dept Epidemiol Res, DK-2300 Copenhagen, Denmark

[10] Univ Pittsburgh, Dept Human Genet, Pittsburgh, PA USA

[11] Univ Texas Houston, Inst Mol Med, Houston, TX USA

[12] Univ S Carolina, Keck Sch Med, Los Angeles, CA USA

[13] Natl Inst Dent & Craniofacial Res, US NIH, Bethesda, MD USA

[14] Northwestern Univ, Feinberg Sch Med, Chicago, IL 60611 USA

[15] Mayo Clin, Div Hematol, Rochester, MN USA

[16] Harvard Univ, Sch Med, Boston, MA 02115 USA

[17] NHGRI, NIH, Bethesda, MD 20892 USA

[18] Univ Pittsburgh, Dept Oral Biol, Pittsburgh, PA USA

[19] MIT & Harvard, Broad Inst, Boston, MA USA

[20] NIH, Natl Ctr Biotechnol Informat, Bethesda, MD 20892 USA

[21] NCI, NIH, Bethesda, MD 20892 USA

来源：

GENETIC EPIDEMIOLOGY | 2010年 / 34卷 / 04期

基金：

加拿大健康研究院;

关键词：

genome-wide association; complex disease; quantitative traits; gene-environment interaction; phenotype harmonization; GENOME-WIDE ASSOCIATION; RISK; HETEROGENEITY; POPULATION; DISEASES; CANCER;

D O I：

10.1002/gepi.20492

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Genome-wide association studies (GWAS) have emerged as powerful means for identifying genetic loci related to complex diseases. However, the role of environment and its potential to interact with key loci has not been adequately addressed in most GWAS. Networks of collaborative studies involving different study populations and multiple phenotypes provide a powerful approach for addressing the challenges in analysis and interpretation shared across studies. The Gene, Environment Association Studies (GENEVA) consortium was initiated to: identify genetic variants related to complex diseases; identify variations in gene-trait associations related to environmental exposures; and ensure rapid sharing of data through the database of Genotypes and Phenotypes. GENEVA consists of several academic institutions, including a coordinating center, two genotyping centers and 14 independently designed studies of various phenotypes, as well as several Institutes and Centers of the National Institutes of Health led by the National Human Genome Research Institute. Minimum detectable effect sizes include relative risks ranging from 1.24 to 1.57 and proportions of variance explained ranging from 0.0097 to 0.02. Given the large number of research participants (N > 80,000), an important feature of GENEVA is harmonization of common variables, which allow analyses of additional traits. Environmental exposure information available from most studies also enables testing of gene-environment interactions. Facilitated by its sizeable infrastructure for promoting collaboration, GENEVA has established a unified framework for genotyping, data quality control, analysis and interpretation. By maximizing knowledge obtained through collaborative GWAS incorporating environmental exposure information, GENEVA aims to enhance our understanding of disease etiology, potentially identifying opportunities for intervention. Genet. Epidemiol. 34:364-372, 2010. (C) 2010 Wiley-Liss, Inc.

引用

页码：364 / 372

页数：9

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