title: Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome.
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.
authors.affiliation: Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders, Bio-X Institutes, Ministry of Education, Shanghai Jiao Tong University, China.
authors.forename: Yongyong
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authors.lastname: Shi
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authors.lastname: Wang
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authors.lastname: Geng
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authors.lastname: Ma
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authors.lastname: Zhao
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authors.lastname: Zhang
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authors.lastname: Qin
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authors.lastname: Yang
authors.forename: Hong
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authors.lastname: Jiang
authors.forename: Jin-e
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authors.lastname: Xu
authors.forename: Xiujuan
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authors.lastname: Qi
authors.forename: Yun
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authors.lastname: Sun
authors.forename: Yajie
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authors.lastname: Zhang
authors.forename: Cuifang
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authors.lastname: Hao
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authors.lastname: Zhao
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authors.lastname: Ren
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authors.lastname: Li
authors.forename: Wei
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authors.lastname: Zhang
authors.forename: Yiwen
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authors.lastname: Zhang
authors.forename: Jiangtao
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authors.lastname: Zhang
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authors.lastname: Wu
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mesh_terms: D044466:Asian People / Q000235:genetics / Q000706:statistics & numerical data; D016022:Case-Control Studies; D015331:Cohort Studies; D003924:Diabetes Mellitus, Type 2 / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease / Q000208:ethnology; D055106:Genome-Wide Association Study / Q000706:statistics & numerical data; D005838:Genotype; D006801:Humans; D015201:Meta-Analysis as Topic; D011085:Polycystic Ovary Syndrome / Q000453:epidemiology / Q000208:ethnology / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000502:physiology; D011962:Receptors, FSH / Q000235:genetics; D054928:Validation Studies as Topic
chemical_list: D011962:Receptors, FSH