Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

• DOI: 10.1038/ng.732
• Publication Date: 2010-12-12T20:06:28Z
• Authors: Zi-Jiang Chen; Han Zhao; Lin He; Yuhua Shi; Yingying Qin; Yongyong Shi; Zhiqiang Li; Li You; Junli Zhao; Jiayin Liu; Xiaoyan Liang; Xiaoming Zhao; Junzhao Zhao; Yingpu Sun; Bo Zhang; Hong Jiang; Dongni Zhao; Yuehong Bian; Xuan Gao; Ling Geng; Yiran Li; Dongyi Zhu; Xiuqin Sun; Jin-e Xu; Cuifang Hao; Chun-e Ren; Yajie Zhang; Shiling Chen; Wei Zhang; Aijun Yang; Junhao Yan; Yuan Li; Jinlong Ma; Yueran Zhao
• Keywords: Genotype; Genome, Human; Chromosome Mapping; 3. Good health; 03 medical and health sciences; 0302 clinical medicine; Asian People; Meta-Analysis as Topic; Chromosomes, Human, Pair 2; Odds Ratio; Humans; Female; Genetic Predisposition to Disease; Chromosomes, Human, Pair 9; Genome-Wide Association Study; Polycystic Ovary Syndrome

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 P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 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.