Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3 |
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Authors: | Chen Zi-Jiang Zhao Han He Lin Shi Yuhua Qin Yingying Shi Yongyong Li Zhiqiang You Li Zhao Junli Liu Jiayin Liang Xiaoyan Zhao Xiaoming Zhao Junzhao Sun Yingpu Zhang Bo Jiang Hong Zhao Dongni Bian Yuehong Gao Xuan Geng Ling Li Yiran Zhu Dongyi Sun Xiuqin Xu Jin-E Hao Cuifang Ren Chun-E Zhang Yajie Chen Shiling Zhang Wei Yang Aijun Yan Junhao Li Yuan Ma Jinlong Zhao Yueran |
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Institution: | Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, Jinan, Shandong, China. zjchen59@yahoo.com |
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Abstract: | 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?1?, 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. |
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