Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
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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The first PCOS GWAS was published in 2010 and demonstrated 11 gene loci associated with PCOS.
“The first PCOS GWAS was published in 2010 and demonstrated 11 gene loci associated with PCOS [87].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [87]
Recent genome-wide association studies in Caucasian and Asian PCOS populations report preservation of genes across both NIH and Rotterdam criteria.
“recent genome-wide association studies in Caucasian (Day et al., 2015;Hayes et al., 2015) and Asian (Chen et al., 2011;Shi et al., 2012) PCOS populations report preservation of genes across both criteria.”
From Insulin resistance in polycystic ovary syndrome: a systematic review and meta-analysis of euglycaemic–hyperinsulinaemic clamp studies (2016) · cites this paper as Chen et al., 2011
Similarities in IR may be related to genetic variations that are preserved across NIH and Rotterdam criteria, suggesting a homogenous disease origin linked to insulin-related genes.
“Similarities in IR may be related to genetic variations that are preserved across these criteria (Chen et al., 2011;Day et al., 2015;Hayes et al., 2015), suggesting a homogenous disease origin linked to insulin-related genes (Shi et al., 2012).”
From Insulin resistance in polycystic ovary syndrome: a systematic review and meta-analysis of euglycaemic–hyperinsulinaemic clamp studies (2016) · cites this paper as Chen et al., 2011
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 [113]
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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
- Venue
- Nature Genetics
- Published
- 2010-12-12
- Volume
- 43
- Issue
- 1
- Pages
- 55-59
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- 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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