Journal Article

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

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

2012

Overview

Zi-Jiang Chen and colleagues report a genome-wide association analysis for polycystic ovary syndrome (PCOS) in Han Chinese. They identify eight new susceptibility loci for PCOS in this population. 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.

• Publisher: Nature Publishing Group US,Nature Publishing Group
• Subject: 631/208/205/2138 / 631/208/2489/144 / 692/699/2743/1526/1744 / Agriculture / Animal Genetics and Genomics / Apoptosis / Asian Continental Ancestry Group - genetics / Asian Continental Ancestry Group - statistics & numerical data / Biological and medical sciences / Biomedicine / Cancer Research / Case-Control Studies / Cell division / Cohort Studies / Diabetes Mellitus, Type 2 - epidemiology / Diabetes Mellitus, Type 2 - ethnology / Diabetes Mellitus, Type 2 - genetics / Female / Female genital diseases / Fundamental and applied biological sciences. Psychology / Gene Frequency / Gene Function / Genealogy / Genetic aspects / Genetic Loci / Genetic Predisposition to Disease - ethnology / Genetics of eukaryotes. Biological and molecular evolution / Genome-Wide Association Study - statistics & numerical data / Genomes / Genotype / Gynecology. Andrology. Obstetrics / Health aspects / Human Genetics / Humans / Independent sample / Infertility / Insulin resistance / letter / Logistics / Medical sciences / Meta-Analysis as Topic / Metabolic disorders / Non tumoral diseases / Polycystic ovary syndrome / Polycystic Ovary Syndrome - epidemiology / Polycystic Ovary Syndrome - ethnology / Polycystic Ovary Syndrome - genetics / Polymorphism, Single Nucleotide - physiology / Proteins / Quantitative trait loci / R&D / Receptors, FSH - genetics / Research & development / Risk factors / Stein-Leventhal syndrome / Validation Studies as Topic / Women