Genetic determinants of polycystic ovary syndrome: Progress and future directions
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The field of the genetics of polycystic ovary syndrome (PCOS) has relatively recently moved into the era of genome-wide association studies. This has led to the discovery of 16 robust loci for PCOS. Some loci contain genes with clear roles in reproductive (LHCGR, FSHR, and FSHB) and metabolic (INSR and HMGA2) dysfunction in the syndrome. The next challenge facing the field is the identification of causal variants and genes and the role they play in PCOS pathophysiology. The potential for gene discovery to improve diagnosis and treatment of PCOS is promising, though there is much to be done in the field before the current findings can be translated to the clinic.
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A large number of genetic and genome-wide association studies have identified common gene loci associated with PCOS phenotypes in different ethnic populations.
“A large number of genetic and genome-wide association studies (GWAS) have identified common gene loci associated with PCOS phenotypes in different ethnic populations [29,30,31].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [31]
The allele(s) associated with increased risk of endometriosis are also associated with shorter menstrual cycles, earlier age at menopause, increased dizygotic twinning and polycystic ovarian syndrome.
“The allele(s) associated with increased risk of endometriosis are also associated with shorter menstrual cycles, earlier age at menopause, increased dizygotic twinning and polycystic ovarian syndrome24454748.”
From Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism (2017) · cites this paper as [47]
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- Authors
- Jones, M. R., & Goodarzi, M. O.
- Affiliations
- Cedars-Sinai Medical Center (US)
- Corresponding author
- Jones, Michelle R.
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2016-07
- Volume
- 106
- Issue
- 1
- Pages
- 25-32
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2418627758
- Semantic Scholar
- 9d03dfa10b0af4c49bad7f521355c2c79d509ea0
- Cited by
- 117
- References
- 107
- Citations by year
- 2026: 1 · 2025: 7 · 2024: 8 · 2023: 11 · 2022: 19 · 2021: 10 · 2020: 14 · 2019: 17 · 2018: 16 · 2017: 11 · 2016: 3
- FWCI
- 2.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Reproductive Biology and Fertility
- Keywords
- polycystic ovary syndrome, genetic factors, genome-wide association study, LHCGR, FSH receptor, follicle-stimulating hormone beta subunit, insulin receptor, HMGA2, reproductive disorders, metabolic dysfunction, causal variants, PCOS pathophysiology
- MeSH terms
- Female, Genetic Markers, Humans, Phenotype, Polycystic Ovary Syndrome, Reproduction, Risk Factors, Genetic Variation, Genetic Predisposition to Disease, Heredity, Genome-Wide Association Study, Reproductive Health
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