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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.731||Handle Link:||https://hdl.handle.net/1959.11/22042||Open Access Link:||https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3019124/||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:||1061-4036
|Field of Research (FOR):||060405 Gene Expression (incl. Microarray and other genome-wide approaches)||Peer Reviewed:||Yes||HERDC Category Description:||C1 Refereed Article in a Scholarly Journal||Statistics to Oct 2018:||Visitors: 16
|Appears in Collections:||Journal Article|
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