Cited by 784Ovarian function and disordersGenetic Associations and EpidemiologyGenetic and Kidney Cyst Diseases

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Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

Chen, Zi-Jiang, Zhao, Han, He, Lin, Shi, Yuhua, Qin, Yingying, Shi, Yongyong, Li, Zhiqiang, You, Li, Zhao, Junli, Liu, Jiayin, Liang, Xiaoyan, Zhao, Xiaoming, Zhao, Junzhao, Sun, Yingpu, Zhang, Bo, Jiang, Hong, Zhao, Dongni, Bian, Yuehong, Gao, Xuan, Geng, Ling, Li, Yiran, Zhu, Dongyi, Sun, Xiuqin, Xu, Jin-e, Hao, Cuifang, Ren, Chun-e, Zhang, Yajie, Chen, Shiling, Zhang, Wei, Yang, Aijun, Yan, Junhao, Li, Yuan, Ma, Jinlong, Zhao, Yueran·2011·Nature Genetics

DOI 10.1038/ng.732

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Abstract

Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.

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Authors: Chen, Z.-J., Zhao, H., He, L., Shi, Y., Qin, Y., Shi, Y., Li, Z., You, L., Zhao, J., Liu, J., Liang, X., Zhao, X., Zhao, J., Sun, Y., Zhang, B., Jiang, H., Zhao, D., Bian, Y., Gao, X., Geng, L., Li, Y., Zhu, D., Sun, X., Xu, J.-E., Hao, C., Ren, C.-E., Zhang, Y., Chen, S., Zhang, W., Yang, A., Yan, J., Li, Y., Ma, J., & Zhao, Y.
Affiliations: Shandong University (CN)
Shanghai Jiao Tong University (CN)
Wenzhou Medical University (CN)
Jiangsu Province Hospital (CN)
Sixth Affiliated Hospital of Sun Yat-sen University (CN)
Guangxi Maternal and Child Health Hospital (CN)
Chinese People's Liberation Army (CN)
Sheng Jing Hospital (CN)
Weifang Medical University (CN)
Linyi People's Hospital (CN)
Jining First People's Hospital (CN)
Yuhuangding Hospital (CN)
Affiliated Hospital of Jining Medical University (CN)
Corresponding author: Chen, Zi-Jiang
Shi, Yuhua
Shi, Yongyong
ORCID: Chen, Zi-Jiang
Zhao, Han
He, Lin
Shi, Yuhua
Zhao, Junli
Zhao, Junzhao
Bian, Yuehong
Geng, Ling
Li, Yiran
Zhu, Dongyi
Hao, Cuifang
Zhao, Yueran
Venue: Nature Genetics
Publisher: Springer Science and Business Media LLC
Published: 2010-12-12
Volume: 43
Issue: 1
Pages: 55-59
ISSN: 1061-4036 (ISSN-L)
1546-1718
DOI: 10.1038/ng.732
OpenAlex: W2058667120
Cited by: 782
References: 41
Citations by year: 2026: 29 · 2025: 40 · 2024: 56 · 2023: 110 · 2022: 59 · 2021: 44 · 2020: 53 · 2019: 52 · 2018: 43 · 2017: 53 · 2016: 48 · 2015: 49 · 2014: 51 · 2013: 40 · 2012: 42
FWCI: 36.20
Type: journal article
Language: en
Open access: closed
Licence: www.springer.com/tdm (tdm)
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, genetic association, PCOS pathogenesis, candidate genes
MeSH terms: Chromosome Mapping, Chromosomes, Human, Pair 2, Chromosomes, Human, Pair 9, Female, Genotype, Humans, Polycystic Ovary Syndrome, Meta-Analysis as Topic, Genome, Human, Odds Ratio, Genetic Predisposition to Disease, Asian People, Genome-Wide Association Study

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Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

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