The Role of Genes and Environment in the Etiology of PCOS

Diamanti-Kandarakis, Evanthia; Kandarakis, Helen; Legro, Richard S.

doi:10.1385/endo:30:1:19

Cited by 233Ovarian function and disordersGenetic and Kidney Cyst DiseasesSexual Differentiation and Disorders

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The Role of Genes and Environment in the Etiology of PCOS

Diamanti-Kandarakis, Evanthia, Kandarakis, Helen, Legro, Richard S.·2006·Endocrine

DOI 10.1385/endo:30:1:19

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Abstract

Both genes and the environment contribute to PCOS. Obesity, exacerbated by poor dietary choices and physical inactivity, worsens PCOS in susceptible individuals. The role of other environmental modifiers such as infectious agents or toxins are speculative. Phenotype confusion has characterized genetic studies of PCOS. Although several loci have been proposed as PCOS genes including CYP11A, the insulin gene, the follistatin gene, and a region near the insulin receptor, the evidence supporting linkage is not overwhelming. The strongest case can be made for the region near the insulin receptor gene (but not involving this gene), as it has been identified in two separate studies, and perhaps most importantly has not yet been refuted by larger studies. However, the responsible gene at chromosome 19p13.3 remains to be identified. To date, no gene has been identified that causes or contributes substantially to the development of a PCOS phenotype.

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Authors: Diamanti-Kandarakis, E., Kandarakis, H., & Legro, R. S.
Affiliations: National and Kapodistrian University of Athens (GR)
Corresponding author: Legro, Richard S.
ORCID: Legro, Richard S.
Venue: Endocrine
Publisher: Springer Science and Business Media LLC
Published: 2006
Volume: 30
Issue: 1
Pages: 19-26
ISSN: 0969-711X (ISSN-L)
DOI: 10.1385/endo:30:1:19
OpenAlex: W1975207893
Cited by: 233
References: 52
Citations by year: 2026: 4 · 2025: 19 · 2024: 26 · 2023: 25 · 2022: 23 · 2021: 23 · 2020: 15 · 2019: 24 · 2018: 6 · 2017: 7 · 2016: 10 · 2015: 10 · 2014: 8 · 2013: 9 · 2012: 6
FWCI: 3.52
Type: journal article
Language: en
Open access: closed
Locations: Endocrine (publishedVersion)
PubMed (publishedVersion)
Funders: Pennsylvania State University
Deutsches Krebsforschungszentrum
National Center for Research Resources (M01 RR10732, M01RR010732)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (U54-HD34449, K24 HD01476, U54HD034449, K24HD001476)
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 › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
Keywords: polycystic ovary syndrome, etiology, genetic susceptibility, environmental factors, obesity, insulin resistance, insulin receptor gene, CYP11A, follistatin, chromosome 19p13.3, genetic linkage, infectious agents, toxins
MeSH terms: Cholesterol Side-Chain Cleavage Enzyme, Chromosomes, Human, 19-20, Environment, Family, Female, Humans, Insulin, Obesity, Polycystic Ovary Syndrome, Receptor, Insulin, Genetic Predisposition to Disease, Follistatin

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The Role of Genes and Environment in the Etiology of PCOS

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