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ea0029s44.1 | Genome wide studies in reproduction | ICEECE2012

Genome-wide association study of endometriosis identifies a locus at 7p15.2 with pleiotropic effects

Zondervan K. , Painter J. , Rahmioglu N. , Nyholt D. , Anderson C. , MacGregor S. , Lee H. , Visscher P. , Kraft P. , Martin N. , Morris A. , Treloar S. , Kennedy S. , Lindgren C. , Missmer S. , Montgomery G.

Endometriosis is a common gynaecological disease associated with severe pelvic pain and sub-fertility. We conducted a genome-wide association (GWA) study in 3,194 surgically confirmed endometriosis cases and 7060 controls of European ancestry from Australia and the UK using 540,000 genetic markers (SNPs). Polygenic predictive modelling showed significantly increased genetic loading among the 1364 (43%) cases with moderate-severe (rAFS III/IV) endometriosis. The strongest assoc...

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Genome-wide association study of endometriosis identifies a locus at 7p15.2 with pleiotropic effects

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