Cited by 117Ovarian function and disordersGenetic and Kidney Cyst DiseasesReproductive Biology and Fertility

Genetic determinants of polycystic ovary syndrome: Progress and future directions

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Jones, Michelle R., Goodarzi, Mark O.·2016·Fertility and Sterility

Abstract

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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Crossref · 10.1016/j.fertnstert.2016.04.040

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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].”
  • 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.”

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  1. [6]6. Ferriman D, Purdie AW. The inheritance of PCO and possible relationship to premature balding. Clin Endocrinol 1979;11:291-300.

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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
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
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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