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Title: Genome-wide association study identifies a locus at 7p15.2 associated with endometriosis
Contributor(s): Painter, Jodie N (author); Anderson, Carl A (author); Gordon, Scott D (author); Wallace, Leanne (author); Henders, Anjali K (author); Visscher, Peter M (author); Kraft, Peter (author); Martin, Nicholas G (author); Morris, Andrew P (author); Treloar, Susan A (author); Kennedy, Stephen H (author); Missmer, Stacey A (author); Nyholt, Dale R (author); Montgomery, Grant W (author); Zondervan, Krina T (author); Macgregor, Stuart (author); Lin, Jianghai (author); Lee, Sang Hong  (author); Lambert, Ann (author); Zhao, Zhen Z (author); Roseman, Fenella (author); Guo, Qun (author)
Publication Date: 2011
Open Access: Yes
DOI: 10.1038/ng.731Open Access Link
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Abstract: Endometriosis is a common gynecological disease associated with pelvic pain and subfertility. We conducted a genome-wide association study (GWAS) in 3,194 individuals with surgically confirmed endometriosis (cases) and 7,060 controls from Australia and the UK. Polygenic predictive modeling showed significantly increased genetic loading among 1,364 cases with moderate to severe endometriosis. The strongest association signal was on 7p15.2 (rs12700667) for 'all' endometriosis (P = 2.6 x 10-7, odds ratio (OR) = 1.22, 95% CI 1.13-1.32) and for moderate to severe disease (P = 1.5 x 10-9, OR = 1.38, 95% CI 1.24-1.53). We replicated rs12700667 in an independent cohort from the United States of 2,392 self-reported, surgically confirmed endometriosis cases and 2,271 controls (P = 1.2 x 10-3, OR = 1.17, 95% CI 1.06-1.28), resulting in a genome-wide significant P value of 1.4 x 10-9 (OR = 1.20, 95% CI 1.13-1.27) for 'all' endometriosis in our combined datasets of 5,586 cases and 9,331 controls. rs12700667 is located in an intergenic region upstream of the plausible candidate genes NFE2L3 and HOXA10.
Publication Type: Journal Article
Source of Publication: Nature Genetics, 43(1), p. 51-54
Publisher: Nature Publishing Group
Place of Publication: United States of America
ISSN: 1546-1718
Fields of Research (FoR) 2008: 060405 Gene Expression (incl. Microarray and other genome-wide approaches)
Socio-Economic Objective (SEO) 2008: 920110 Inherited Diseases (incl. Gene Therapy)
Peer Reviewed: Yes
HERDC Category Description: C1 Refereed Article in a Scholarly Journal
Appears in Collections:Journal Article

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