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Chen Z.-J.,Shandong University | Chen Z.-J.,Shandong Key Laboratory of Reproductive Medicine | Zhao H.,Shandong University | Zhao H.,Shandong Key Laboratory of Reproductive Medicine | And 45 more authors.
Nature Genetics | Year: 2011

Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis Pmeta = 7.55 ×- 10-21, odds ratio (OR) 0.71); 2p21 (rs13429458, Pmeta = 1.73 ×- 10-23, OR 0.67); and 9q33.3 (rs2479106, P meta = 8.12 ×- 10-19, OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended. © 2011 Nature America, Inc. All rights reserved.

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