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

Yongyong Shi; 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

doi:10.1038/ng.2384

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

Yongyong Shi
, 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

^*Corresponding author for this work

Shanghai Jiao Tong University
Shanghai Genome Pilot Institutes for Genomics and Human Health
Changning Mental Health Center
Shandong University
Ministry of Education China
Shandong Provincial Key Laboratory of Reproductive Medicine
Anhui Medical University
Sun Yat-Sen University
The Guangxi Zhuang Autonomous Region Maternal and Child Health Hospital
Sixth Affiliated Hospital of Sun Yat-Sen University
First Affiliated Hospital of Wenzhou Medical College
Linyi People's Hospital
Ministry of Health of People's Republic of China
Affiliated Hospital of Ningxia Medical University
Qingdao Women and Children Medical Healthcare Center
Jining Medical College
The First Affiliated Hospital of Nanjing Medical University
GlaxoSmithKline
Maternal and Child Health Care Hospital of Shaanxi Province
Renmin Hospital of Wuhan University
PLA No. 105 Hospital
Qingdao University
Jinan Health Institute of Maternity and Infant
Yantai Yuhuangding Hospital
Tengzhou People's Hospital
China Medical University
Weifang Medical University
Anqiu People's Hospital
Fudan University
Weihai Women and Children Hospital
CAS - Shanghai Institute of Nutrition and Health

Research output: Contribution to journal › Article › peer-review

568 Citations (Scopus)

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.

Original language	English
Pages (from-to)	1020-1025
Number of pages	6
Journal	Nature Genetics
Volume	44
Issue number	9
DOIs	https://doi.org/10.1038/ng.2384
Publication status	Published - Sept 2012
Externally published	Yes

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@article{d93b081699d9419e87de2e5d4b96ab02,

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 {\texttimes} 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.",

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

year = "2012",

month = sep,

doi = "10.1038/ng.2384",

language = "English",

volume = "44",

pages = "1020--1025",

journal = "Nature Genetics",

issn = "1061-4036",

number = "9",

}

Shi, Y, Zhao, H, Shi, Y, Cao, Y, Yang, D, Li, Z, Zhang, B, Liang, X, Li, T, Chen, J, Shen, J, Zhao, J, You, L, Gao, X, Zhu, D, Zhao, X, Yan, Y, Qin, Y, Li, W, Yan, J, Wang, Q, Zhao, J, Geng, L, Ma, J, Zhao, Y, He, G, Zhang, A, Zou, S, Yang, A, Liu, J, Li, W, Li, B, Wan, C, Qin, Y, Shi, J, Yang, J, Jiang, H, Xu, JE, Qi, X, Sun, Y, Zhang, Y, Hao, C, Ju, X, Zhao, D, Ren, CE, Li, X, Zhang, W, Zhang, Y, Zhang, J, Wu, D, Zhang, C, He, L & Chen, ZJ 2012, 'Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome', Nature Genetics, vol. 44, no. 9, pp. 1020-1025. https://doi.org/10.1038/ng.2384

TY - JOUR

T1 - Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome

AU - Shi, Yongyong

AU - Zhao, Han

AU - Shi, Yuhua

AU - Cao, Yunxia

AU - Yang, Dongzi

AU - Li, Zhiqiang

AU - Zhang, Bo

AU - Liang, Xiaoyan

AU - Li, Tao

AU - Chen, Jianhua

AU - Shen, Jiawei

AU - Zhao, Junzhao

AU - You, Li

AU - Gao, Xuan

AU - Zhu, Dongyi

AU - Zhao, Xiaoming

AU - Yan, Ying

AU - Qin, Yingying

AU - Li, Wenjin

AU - Yan, Junhao

AU - Wang, Qingzhong

AU - Zhao, Junli

AU - Geng, Ling

AU - Ma, Jinlong

AU - Zhao, Yueran

AU - He, Guang

AU - Zhang, Aiping

AU - Zou, Shuhua

AU - Yang, Aijun

AU - Liu, Jiayin

AU - Li, Weidong

AU - Li, Baojie

AU - Wan, Chunling

AU - Qin, Ying

AU - Shi, Juanzi

AU - Yang, Jing

AU - Jiang, Hong

AU - Xu, Jin E.

AU - Qi, Xiujuan

AU - Sun, Yun

AU - Zhang, Yajie

AU - Hao, Cuifang

AU - Ju, Xiuqing

AU - Zhao, Dongni

AU - Ren, Chun E.

AU - Li, Xiuqing

AU - Zhang, Wei

AU - Zhang, Yiwen

AU - Zhang, Jiangtao

AU - Wu, Di

AU - Zhang, Changming

AU - He, Lin

AU - Chen, Zi Jiang

PY - 2012/9

Y1 - 2012/9

N2 - 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.

AB - 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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U2 - 10.1038/ng.2384

DO - 10.1038/ng.2384

M3 - Article

C2 - 22885925

AN - SCOPUS:84865681750

SN - 1061-4036

VL - 44

SP - 1020

EP - 1025

JO - Nature Genetics

JF - Nature Genetics

IS - 9

ER -

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

Abstract

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