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.
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GWASs involving women of Han Chinese and European origins have identified at least 16 susceptibility loci for PCOS.
“GWASs involving women of Han Chinese and European origins have identified at least 16 susceptibility loci for PCOS [113–116].”
From Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls (2019) · cites this paper as [114]
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- Authors
- 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, J.-E., Qi, X., Sun, Y., Zhang, Y., Hao, C., Ju, X., Zhao, D., Ren, C.-E., Li, X., Zhang, W., Zhang, Y., Zhang, J., Wu, D., Zhang, C., He, L., & Chen, Z.-J.
- Affiliations
- Shanghai Jiao Tong University (CN)
- Ministry of Education of the People's Republic of China (CN)
- Shandong University (CN)
- Anhui Medical University (CN)
- Sun Yat-sen University (CN)
- Guangxi Maternal and Child Health Hospital (CN)
- Sixth Affiliated Hospital of Sun Yat-sen University (CN)
- Wenzhou Medical University (CN)
- Linyi People's Hospital (CN)
- National Health and Family Planning Commission (CN)
- Qingdao Women and Children's Hospital (CN)
- Affiliated Hospital of Jining Medical University (CN)
- Jiangsu Province Hospital (CN)
- Northwest Women's and Children's Hospital (CN)
- Renmin Hospital of Wuhan University (CN)
- Chinese People's Liberation Army (CN)
- Qingdao University (CN)
- Weihai Maternal and Child Health Hospital (CN)
- Yuhuangding Hospital (CN)
- Tengzhou Central People's Hospital (CN)
- China Medical University (CN)
- Shanghai Medical College of Fudan University (CN)
- Corresponding author
- He, Lin
- Chen, Zi-Jiang
- ORCID
- Shi, Yongyong
- Zhao, Han
- Shi, Yuhua
- Cao, Yunxia
- Yang, Dongzi
- Li, Zhiqiang
- Zhang, Bo
- Liang, Xiaoyan
- Chen, Jianhua
- Shen, Jiawei
- Zhao, Junzhao
- Gao, Xuan
- Zhao, Xiaoming
- Yan, Ying
- Qin, Yingying
- Li, Wenjin
- Yan, Junhao
- Wang, Qingzhong
- Zhao, Junli
- Geng, Ling
- Ma, Jinlong
- He, Guang
- Zhang, Aiping
- Zou, Shuhua
- Yang, Aijun
- Liu, Jiayin
- Li, Weidong
- Li, Baojie
- Wan, Chunling
- Shi, Juanzi
- Yang, Jing
- Jiang, Hong
- Qi, Xiujuan
- Sun, Yun
- Zhang, Yajie
- Hao, Cuifang
- Zhang, Wei
- Zhang, Yiwen
- Zhang, Jiangtao
- Wu, Di
- Zhang, Changming
- He, Lin
- Chen, Zi-Jiang
- Venue
- Nature Genetics
- Published
- 2012-08-12
- Volume
- 44
- Issue
- 9
- Pages
- 1020-1025
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2027257508
- Cited by
- 678
- References
- 52
- Citations by year
- 2026: 24 · 2025: 43 · 2024: 52 · 2023: 105 · 2022: 59 · 2021: 47 · 2020: 58 · 2019: 51 · 2018: 42 · 2017: 48 · 2016: 43 · 2015: 38 · 2014: 37 · 2013: 28 · 2012: 2
- FWCI
- 39.24
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Keywords
- polycystic ovary syndrome, genetic susceptibility loci, Han Chinese, FSH receptor, insulin signaling, type 2 diabetes, calcium signaling, endocytosis, candidate genes, 19p13.3
- MeSH terms
- Diabetes Mellitus, Type 2, Female, Gene Frequency, Genotype, Humans, Polycystic Ovary Syndrome, Receptors, FSH, Meta-Analysis as Topic, Cohort Studies, Case-Control Studies, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Asian People, Validation Studies as Topic, Genome-Wide Association Study, Genetic Loci
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