Heritability of endometriosis
Open accessAbstract
Objective To estimate the relative contribution of genetic influences and prevalence on endometriosis.Design Analysis of self-reported data from a nationwide population-based twin registry.Setting Not applicable.Patient(s) A total of 28,370 women, female monozygotic (MZ) or dizygotic (DZ) twins, who participated in either of two surveys (1998-2002 or 2005-2006).Intervention(s) None.Main outcome measure(s) Self-reported endometriosis, validated by medical records.Result(s) A history of endometriosis was reported by 1,228 female twins. The probandwise concordance was 0.21 for MZ and 0.10 for DZ twins. Higher within-pair (tetrachoric) correlation was observed among MZ (0.47) compared with DZ (0.20) twins. The best-fitting model revealed a contribution of 47% by additive genetic factors and the remaining 53% attributed to unique environmental effects.Conclusion(s) Our findings suggest both genetic and unique (nonshared) environmental influences on the complex etiology of endometriosis and support the hypothesis that genes have a strong influence on phenotypic manifestations of endometriosis.
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Hereditary factors were estimated to account for 50% of endometriosis.
“More recently, hereditary factors were estimated to account for 50% of endometriosis (45)(46)(47).”
From Pathogenesis of endometriosis: The genetic/epigenetic theory (2019) · cites this paper as [46]
Endometriosis is a hereditary disease and about 50% of endometriosis lesions can be attributed to hereditary factors.
“Endometriosis is an hereditary disease and some 50% of endometriosis lesions can be attributed to hereditary factors (153-155).”
From Pathogenesis of deep endometriosis (2017) · cites this paper as [154]
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References 43 · Cited by 211
- Authors
- Saha, R., Pettersson, H. J., Svedberg, P., Olovsson, M., Bergqvist, A., Marions, L., Tornvall, P., & Kuja-Halkola, R.
- Affiliations
- Karolinska Institutet (SE)
- Uppsala University (SE)
- Corresponding author
- Saha, Rama
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 2015-10
- Volume
- 104
- Issue
- 4
- Pages
- 947-952
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W1908598451
- Cited by
- 211
- References
- 43
- Citations by year
- 2026: 15 · 2025: 38 · 2024: 20 · 2023: 34 · 2022: 24 · 2021: 25 · 2020: 7 · 2019: 17 · 2018: 14 · 2017: 11 · 2016: 6
- FWCI
- 11.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Funders
- KI Centre for Health Care Science and the KI Strategic Research Program in Epidemiology (Dnr 7340/2012)
- Department of Higher Education, the Swedish Research Council, and AstraZeneca (DK066134)
- U.S. National Institutes of Health (CA085739)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Health Sciences › Medicine › Obstetrics and Gynecology › Gynecological conditions and treatments
- Keywords
- endometriosis, heritability, genetic factors, monozygotic twins, dizygotic twins, concordance, additive genetic effects, unique environmental effects, twin registry, endometriosis etiology
- MeSH terms
- Adult, Aged, Cross-Sectional Studies, Diseases in Twins, Endometriosis, Female, Humans, Middle Aged, Models, Genetic, Twins, Dizygotic, Twins, Monozygotic, Quantitative Trait, Heritable, Genetic Predisposition to Disease, Young Adult
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