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Heritability of Polycystic Ovary Syndrome in a Dutch Twin-Family Study
Open accessAbstract
BACKGROUND: Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders among women of reproductive age. There is evidence for a genetic component in PCOS based on familial clustering of cases. OBJECTIVE: In the present study, the heritability of PCOS was estimated. DESIGN/PARTICIPANTS: Data from 1332 monozygotic twins (genetically identical) and 1873 dizygotic twins/singleton sisters of twins (who share on average 50% of their segregating genes) registered with The Netherlands Twin Register were used. PCOS was defined as less than nine menstrual cycles and acne or hirsutism in agreement with the 2003 Rotterdam consensus. RESULTS: Results point to a strong contribution of familial factors to PCOS. The resemblance in monozygotic twin sisters (tetrachoric correlation 0.71) for PCOS was about twice as large as in dizygotic twin and other sisters (tetrachoric correlation 0.38). Univariate analyses point to strong contributions of genetic factors to the variance in PCOS. Next, a trivariate genetic analysis of oligomenorrhea, acne, and hirsutism was carried out. This analysis confirmed that the familial component in PCOS is due to genetic factors. CONCLUSIONS: This study demonstrated a large influence of genetic factors to the pathogenesis of PCOS, justifying the search for susceptibility genes.
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“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 [79]
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“The failure to identify a qualitative or monogenic inheritance pattern and the findings from GWAS, MR, familial and twin studies, suggests that the heritability of PCOS is likely to be due to the combination of multiple genes with small effect size, as has been found with obesity and type 2 diabetes [79,80,94,95,96].”
From Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment (2022) · cites this paper as [79]
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“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 [79]
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“Twin studies suggest that the hereditability is ∼70% [112].”
From Polycystic Ovary Syndrome: Pathophysiology, Presentation, and Treatment With Emphasis on Adolescent Girls (2019) · cites this paper as [112]
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Metadata
- Authors
- Vink, J. M., Sadrzadeh, S., Lambalk, C. B., & Boomsma, D. I.
- Affiliations
- Vrije Universiteit Amsterdam (NL)
- Corresponding author
- Vink, J. M.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2006-06
- Volume
- 91
- Issue
- 6
- Pages
- 2100-2104
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- OpenAlex
- W2156480732
- Cited by
- 647
- References
- 28
- Citations by year
- 2026: 27 · 2025: 45 · 2024: 54 · 2023: 55 · 2022: 46 · 2021: 45 · 2020: 37 · 2019: 54 · 2018: 37 · 2017: 29 · 2016: 37 · 2015: 38 · 2014: 18 · 2013: 27 · 2012: 23
- FWCI
- 17.28
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- VU Research Portal (publishedVersion, other-oa)
- Digital Academic REpository of VU University Amsterdam (Vrije Universiteit Amsterdam) (submittedVersion)
- Data Archiving and Networked Services (DANS) (submittedVersion, other-oa)
- Funders
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (985-10002)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Health Sciences › Medicine › Pediatrics, Perinatology and Child Health › Assisted Reproductive Technology and Twin Pregnancy
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Sexual Differentiation and Disorders
- Keywords
- polycystic ovary syndrome, heritability, genetic factors, monozygotic twins, dizygotic twins, familial aggregation, oligomenorrhea, acne, hirsutism, susceptibility genes
- MeSH terms
- Adult, Diseases in Twins, Female, Humans, Polycystic Ovary Syndrome, Twins, Twins, Dizygotic, Twins, Monozygotic, Twin Studies as Topic
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