Literature DB >> 22885925

Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.

Yongyong Shi1, Han Zhao, Yuhua Shi, Yunxia Cao, Dongzi Yang, Zhiqiang Li, Bo Zhang, Xiaoyan Liang, Tao Li, Jianhua Chen, Jiawei Shen, Junzhao Zhao, Li You, Xuan Gao, Dongyi Zhu, Xiaoming Zhao, Ying Yan, Yingying Qin, Wenjin Li, Junhao Yan, Qingzhong Wang, Junli Zhao, Ling Geng, Jinlong Ma, Yueran Zhao, Guang He, Aiping Zhang, Shuhua Zou, Aijun Yang, Jiayin Liu, Weidong Li, Baojie Li, Chunling Wan, Ying Qin, Juanzi Shi, Jing Yang, Hong Jiang, Jin-e Xu, Xiujuan Qi, Yun Sun, Yajie Zhang, Cuifang Hao, Xiuqing Ju, Dongni Zhao, Chun-e Ren, Xiuqing Li, Wei Zhang, Yiwen Zhang, Jiangtao Zhang, Di Wu, Changming Zhang, Lin He, Zi-Jiang Chen.   

Abstract

Following a previous genome-wide association study (GWAS 1) including 744 cases and 895 controls, we analyzed genome-wide association data from a new cohort of Han Chinese (GWAS 2) with 1,510 polycystic ovary syndrome (PCOS) cases and 2,016 controls. We followed up significantly associated signals identified in the combined results of GWAS 1 and 2 in a total of 8,226 cases and 7,578 controls. In addition to confirming the three loci we previously reported, we identify eight new PCOS association signals at P < 5 × 10(-8): 9q22.32, 11q22.1, 12q13.2, 12q14.3, 16q12.1, 19p13.3, 20q13.2 and a second independent signal at 2p16.3 (the FSHR gene). These PCOS association signals show evidence of enrichment for candidate genes related to insulin signaling, sexual hormone function and type 2 diabetes (T2D). Other candidate genes were related to calcium signaling and endocytosis. Our findings provide new insight and direction for discovering the biological mechanisms of PCOS.

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Year:  2012        PMID: 22885925     DOI: 10.1038/ng.2384

Source DB:  PubMed          Journal:  Nat Genet        ISSN: 1061-4036            Impact factor:   38.330


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