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 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 [79]
The paper's introductory discussion says a polygenic, multifactorial model is “most likely,” rather than established. The Discussion reports both genetic and unique environmental influences and says weight gain may trigger PCOS in predisposed women. Thus it supports the general account, but the claim states the proposed model and environmental interaction more definitively than the source does. (LLM, conf=0.82)
Experimental — accuracy not yet measuredThe failure to identify a qualitative or monogenic inheritance pattern and the findings from GWAS, Mendelian randomization, familial and twin studies suggest that the heritability of PCOS is likely due to the combination of multiple genes with small effect size.
“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]
Split into 2 atoms — 0 confirmed, 2 partially supported, 0 disputed, 0 misattributed, 0 unverifiable. Expand the claim to see per-atom verdicts.
Experimental — accuracy not yet measuredPCOS 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 [79]
Twin studies suggest that the hereditability of PCOS is approximately 70%.
“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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Hyperandrogenism and Polycystic Ovary Syndrome in Women with Type 1 Diabetes Mellitus
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Polycystic Ovary Syndrome: An Evolutionary Adaptation to Lifestyle and the Environment
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Cesta, C. E., Öberg, A. S., Ibrahimson, A., Yusuf, I., Larsson, H., Almqvist, C., D'Onofrio, B. M., Bulik, C. M., de la Cruz, L. F., Mataix‐Cols, D., et al. (2019) · Psychological Medicine · doi:10.1017/s0033291719000424 · Cited by 112 · see citing works
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Follicle Stimulating Hormone Receptor (FSHR) Polymorphisms and Polycystic Ovary Syndrome (PCOS)
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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].”
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Nonhuman primate models of polycystic ovary syndrome
Abbott, D. H., Nicol, L. E., Levine, J. E., Xu, N., Goodarzi, M. O., & Dumesic, D. A. (2013) · Molecular and Cellular Endocrinology · doi:10.1016/j.mce.2013.01.013 · Cited by 105 · see citing works
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Pathogenic Anti-Müllerian Hormone Variants in Polycystic Ovary Syndrome
Gorsic, L. K., Kosova, G., Werstein, B., Sisk, R. K., Legro, R. S., Hayes, M. G., Teixeira, J. M., Dunaif, A. E., & Urbanek, M. (2017) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2017-00612 · Cited by 103 · see citing works
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Genetics of polycystic ovary syndrome
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MECHANISMS IN ENDOCRINOLOGY: Thyroid and polycystic ovary syndrome
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Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome
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Racial and ethnic disparities in polycystic ovary syndrome
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Polycystic ovary syndrome: Understanding the role of the brain
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Genetics of Polycystic Ovary Syndrome
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Intrauterine Environment and Polycystic Ovary Syndrome
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Immunological and Metabolic Causes of Infertility in Polycystic Ovary Syndrome
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Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries
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Obesity Differentially Affects Phenotypes of Polycystic Ovary Syndrome
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Effect of maternal PCOS and PCOS-like phenotype on the offspring's health
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Polycystic Ovary Syndrome, Obesity and Reproductive Implications
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Polycystic Ovary Syndrome: A Common But Often Unrecognized Condition
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- 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
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › 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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