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

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 an...

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Published in:Nature genetics Vol. 44; no. 9; pp. 1020 - 1025
Main Authors: Shi, Yongyong, Zhao, Han, Shi, Yuhua, Cao, Yunxia, Yang, Dongzi, Li, Zhiqiang, Zhang, Bo, Liang, Xiaoyan, Li, Tao, Chen, Jianhua, Shen, Jiawei, Zhao, Junzhao, You, Li, Gao, Xuan, Zhu, Dongyi, Zhao, Xiaoming, Yan, Ying, Qin, Yingying, Li, Wenjin, Yan, Junhao, Wang, Qingzhong, Zhao, Junli, Geng, Ling, Ma, Jinlong, Zhao, Yueran, He, Guang, Zhang, Aiping, Zou, Shuhua, Yang, Aijun, Liu, Jiayin, Li, Weidong, Li, Baojie, Wan, Chunling, Qin, Ying, Shi, Juanzi, Yang, Jing, Jiang, Hong, Xu, Jin-e, Qi, Xiujuan, Sun, Yun, Zhang, Yajie, Hao, Cuifang, Ju, Xiuqing, Zhao, Dongni, Ren, Chun-e, Li, Xiuqing, Zhang, Wei, Zhang, Yiwen, Zhang, Jiangtao, Wu, Di, Zhang, Changming, He, Lin, Chen, Zi-Jiang
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.09.2012
Nature Publishing Group
Subjects:
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
China
Ovarian diseases
Association
Cyst
Female sterility
Risk
Identification
Benign neoplasm
Polycystic ovary
Locus
Female genital diseases
ISSN:1061-4036, 1546-1718, 1546-1718
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Summary: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.
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ISSN:1061-4036
1546-1718
1546-1718
DOI:10.1038/ng.2384