Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth
Abstract
Polycystic ovary syndrome (PCOS) is a complex and heterogeneous disorder presenting a challenge for clinical investigators. It is the most common endocrine disorder of women in reproductive age, a multifaceted reproductive, cosmetic and metabolic problem, with an enigmatic pathophysiological and molecular basis. Although the familial segregation has been noticed very early in the description of the syndrome and family studies in first-degree relatives of women diagnosed with PCOS reveal clustering of the disease, the genetic studies have not as yet determine the pattern of heredity. Part of the problem in genetic studies has been the lack of uniform criteria for diagnosis, heterogeneity of phenotypic features and the fact that the disorder is only expressed clinically in women during their reproductive years. Even within affected families and between sisters with polycystic ovaries, there is heterogeneity in presentation. However, regardless of diagnostic criteria used to identify profanes and to determine affected status in the kindred, the foundation of genetic studies suggests a strong familial component. Currently, PCOS is considered a polygenic trait that might result from the interaction of susceptible and protective genomic variants under the influence of environmental factors, whose role is under intensive investigation. Candidate genes cover a broad spectrum of an endless list of molecules which participate on every step of reproductive and metabolic pathways of this syndrome. Focused research in identification of these genes may provide valuable information and shed some light on the way out of the genomic labyrinth, elucidating the underlying pathophysiology and aiming at a more efficient therapeutic approach of this complicated endocrine disorder.
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The etiology of PCOS involves an interaction between environmental factors and gene variants, although genetic factors contribute less than 10% to disease susceptibility.
“Extensive research suggests that the etiology of PCOS involves an interaction between environmental factors and gene variants, although it has been suggested that genetic factors contribute less than 10% to disease susceptibility [26,27,28].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [27]
PCOS is a polygenic trait that results from an interaction between susceptible genomic variants and the environment.
“PCOS is therefore viewed as a polygenic trait that results from an interaction between susceptible genomic variants and the environment.”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [27]
Decades of genetic research has characterized PCOS as a polygenic trait that results from interactions between the environment and susceptible genomic traits.
“Decades of genetic research has therefore characterized PCOS as a polygenic trait that results from interactions between the environment and susceptible genomic traits [27,29,79,88].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [27]
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Endocrine-Disrupting Chemicals: An Endocrine Society Scientific Statement
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Self-citationPolycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
parker, J., O'Brien, C., Hawrelak, J., & Gersh, F. (2021) · doi:10.20944/preprints202112.0088.v1 · Cited by 113 · see citing works
Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
Parker, J., O’Brien, C., Hawrelak, J., & Gersh, F. L. (2022) · International Journal of Environmental Research and Public Health · doi:10.3390/ijerph19031336 · Cited by 114 · see citing works
“Decades of genetic research has therefore characterized PCOS as a polygenic trait that results from interactions between the environment and susceptible genomic traits [27,29,79,88].”
Background
- Authors
- Diamanti-Kandarakis, E., & Piperi, C.
- Affiliations
- National and Kapodistrian University of Athens (GR)
- ORCID
- Piperi, Christina
- Venue
- Human Reproduction Update
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-07-01
- Volume
- 11
- Issue
- 6
- Pages
- 631-643
- ISSN
- 1355-4786 (ISSN-L)
- 1460-2369
- OpenAlex
- W2098439455
- Cited by
- 167
- References
- 14
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 18 · 2023: 2 · 2022: 4 · 2021: 3 · 2020: 4 · 2019: 5 · 2018: 4 · 2017: 2 · 2016: 3 · 2015: 13 · 2014: 7 · 2013: 15 · 2012: 11
- FWCI
- 2.32
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Reproduction Update (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, genetics, heritability, familial aggregation, polygenic inheritance, candidate genes, genetic heterogeneity, environmental factors, pathophysiology, diagnostic criteria
- MeSH terms
- Animals, Diet, Environment, Female, Gonadotropins, Humans, Insulin, Obesity, Ovary, Phenotype, Polycystic Ovary Syndrome, Risk Factors, Steroids, Genetic Predisposition to Disease
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