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

doi:10.1038/ng.2384

科研成果详情

题名	Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome
作者	Shi, Yongyong 1,2,3,4; Zhao, Han 5,6,7; Shi, Yuhua 5,6,7; Cao, Yunxia 8; Yang, Dongzi 9; Li, Zhiqiang 1,2,3; Zhang, Bo 10; Liang, Xiaoyan 11; Li, Tao ; Chen, Jianhua 1,12; Shen, Jiawei 1; Zhao, Junzhao13; You, Li 5,6,7; Gao, Xuan 5,6,7; Zhu, Dongyi 14; Zhao, Xiaoming 15; Yan, Ying 16; Qin, Yingying 5,6,7; Li, Wenjin 1; Yan, Junhao 5,6,7; Wang, Qingzhong 1; Zhao, Junli 17; Geng, Ling 5,6,7; Ma, Jinlong 5,6,7; Zhao, Yueran 5,6,7; He, Guang 1; Zhang, Aiping 1; Zou, Shuhua 18; Yang, Aijun 19; Liu, Jiayin 20; Li, Weidong 1; Li, Baojie 1; Wan, Chunling 1; Qin, Ying 21; Shi, Juanzi 22; Yang, Jing 23; Jiang, Hong 24; Xu, Jin-e 25; Qi, Xiujuan 25; Sun, Yun 15; Zhang, Yajie 26; Hao, Cuifang 27; Ju, Xiuqing 28; Zhao, Dongni 29; Ren, Chun-e 30; Li, Xiuqing 31; Zhang, Wei 32; Zhang, Yiwen 33; Zhang, Jiangtao 5; Wu, Di 5; Zhang, Changming 5; He, Lin 1,2,34,35; Chen, Zi-Jiang 5,6,7,15
发表期刊	NATURE GENETICS 影响因子和分区
语种	英语
原始文献类型	Article
其他关键词	INSULIN-RECEPTOR GENE ; SUSCEPTIBILITY LOCI ; POLYMORPHISMS ; METAANALYSIS ; KNOWLEDGEBASE ; SUBFAMILY ; REACTOME ; PANTHER ; DEATH ; PART
摘要	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 x 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.
资助项目	National Basic Research Program of China (973 Program)National Basic Research Program of China [2012CB944700, 2010CB529600, 2011CB944502, 2010CB945002]; 863 ProgramNational High Technology Research and Development Program of China [2012AA02A515]; National Natural Science Foundation of ChinaNational Natural Science Foundation of China (NSFC) [81130022, 30973170, 81121001, 31000553, 81000238, 81070461, 81000236]; National Key Technology Research and Development ProgramNational Key Technology R&D Program [2011BAI17B00]; Science Research Foundation Item of No-earnings Health Vocation [201002013]; Program for Changjiang Scholars and the Innovative Research Team in UniversityProgram for Changjiang Scholars & Innovative Research Team in University (PCSIRT) [IRT1025]; Foundation for the Author of National Excellent Doctoral Dissertation of ChinaFoundation for the Author of National Excellent Doctoral Dissertation of China [201026]; Program for New Century Excellent Talents in UniversityProgram for New Century Excellent Talents in University (NCET) [NCET-09-0550]
出版者	NATURE RESEARCH
出版地	BERLIN
ISSN	1061-4036
EISSN	1546-1718
卷号	44 期号:9 页码:1020-+
DOI	10.1038/ng.2384
WOS类目	Genetics & Heredity
WOS研究方向	Genetics & Heredity
WOS记录号	WOS:000308491200013
收录类别	SCIE
发表日期	2012-09
CNS重要论文	CNS重要论文
自科自定义期刊分类	T2(A)类
引用统计	被引频次：380[WOS] [WOS记录] [WOS相关记录]
文献类型	期刊论文
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/20859
专题	附属第一医院
通讯作者	Chen, Zi-Jiang
作者单位	1.Shanghai Jiao Tong Univ, Minist Educ, Bio X Inst, Key Lab Genet Dev & Neuropsychiat Disorders, Shanghai 200030, Peoples R China; 2.Shanghai GenomePilot Inst Genom & Human Hlth, Shanghai, Peoples R China; 3.Changning Mental Hlth Ctr, Shanghai, Peoples R China; 4.Shandong Univ, Shandong Prov Hosp, Ctr Reprod Med, Jinan 250100, Peoples R China; 5.Natl Res Ctr Assisted Reprod Technol & Reprod Gen, Jinan, Peoples R China; 6.Minist Educ Peoples Republ China, Key Lab Reprod Endocrinol, Jinan, Peoples R China; 7.Shandong Prov Key Lab Reprod Med, Jinan, Peoples R China; 8.Anhui Med Univ, Affiliated Hosp 1, Reprod Med Ctr, Hefei, Peoples R China; 9.Sun Yat Sen Univ, Sun Yat Sen Mem Hosp, Dept Obstet & Gynecol, Guangzhou 510275, Guangdong, Peoples R China; 10.Maternal & Child Hlth Hosp Guangxi Zhuang Autonom, Reprod Med Ctr, Nanning, Peoples R China; 11.Sun Yat Sen Univ, Affiliated Hosp 6, Reprod Med Ctr, Guangzhou 510275, Guangdong, Peoples R China; 12.Shanghai Inst Mental Hlth, Shanghai, Peoples R China; 13.Wenzhou Med Coll, Affiliated Hosp 1, Reprod Med Unit, Wenzhou, Peoples R China; 14.Linyi Peoples Hosp, Reprod Med Ctr, Linyi, Peoples R China; 15.Shanghai Jiao Tong Univ, Sch Med, Renji Hosp, Ctr Reprod Med, Shanghai 200030, Peoples R China; 16.Minist Hlth Peoples Republ China, Natl Inst Hosp Adm, Beijing, Peoples R China; 17.Ningxia Med Univ, Affiliated Hosp, Reprod Med Ctr, Yinchuan, Peoples R China; 18.Qingdao Women & Children Med Healthcare Ctr, Ctr Reprod Med, Qingdao, Peoples R China; 19.Jining Med Coll, Affiliated Hosp, Reprod Med Ctr, Jining, Peoples R China; 20.Nanjing Med Univ, Affiliated Hosp 1, Dept Obstet & Gynecol, Nanjing, Peoples R China; 21.GlaxoSmithKline R&D China, Oncol Translat Med, Shanghai, Peoples R China; 22.Maternal & Child Hlth Care Hosp Shaanxi Prov, Assisted Reprod Ctr, Xian, Peoples R China; 23.Wuhan Univ, Renmin Hosp, Reprod Med Ctr, Wuhan 430072, Peoples R China; 24.Peoples Liberat Army, Hosp 105, Dept Obstet & Gynecol, Hefei, Peoples R China; 25.Qingdao Univ, Coll Med, Affiliated Hosp, Dept Obstet & Gynecol, Qingdao 266071, Peoples R China; 26.Jinan Hlth Inst Matern & Infant, Dept Obstet & Gynecol, Jinan, Peoples R China; 27.Yantai Yuhuangding Hosp, Reprod Med Ctr, Yantai, Peoples R China; 28.Tengzhou Peoples Hosp, Dept Obstet & Gynecol, Tengzhou, Peoples R China; 29.China Med Univ, Shengjing Hosp, Reprod Med Ctr, Shenyang, Peoples R China; 30.Weifang Med Coll, Affiliated Hosp, Dept Obstet & Gynecol, Weifang, Peoples R China; 31.Anqiu Peoples Hosp, Dept Obstet & Gynecol, Anqiu, Peoples R China; 32.Fudan Univ, Obstet & Gynecol Hosp, Dept Gynecol, Shanghai 200433, Peoples R China; 33.Weihai Women & Children Hosp, Reprod Med Unit, Weihai, Peoples R China; 34.Fudan Univ, Inst Biomed Sci, Shanghai 200433, Peoples R China; 35.Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Nutr Sci, Shanghai, Peoples R China
推荐引用方式 GB/T 7714	Shi, Yongyong,Zhao, Han,Shi, Yuhua,et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome[J]. NATURE GENETICS,2012,44(9):1020-+.
APA	Shi, Yongyong., Zhao, Han., Shi, Yuhua., Cao, Yunxia., Yang, Dongzi., ... & Chen, Zi-Jiang. (2012). Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. NATURE GENETICS, 44(9), 1020-+.
MLA	Shi, Yongyong,et al."Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome".NATURE GENETICS 44.9(2012):1020-+.