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Genetic influences on endometriosis in an Australian twin sample
Open accessAbstract
Objective To investigate the prevalence of and twin pair concordance for endometriosis.Design A questionnaire survey incorporating validation.Setting An Australia-wide volunteer sample of female monozygotic (MZ) and dizygotic (DZ) twin pairs from the Australian National Health and Medical Research Council Twin Register.Patient(s) Twins were selected only on the basis of previous participation in twin research.Intervention(s) Questionnaires were sent to 3,298 individuals. Information was requested from physicians named by consenting twins.Main outcome measure(s) Reported endometriosis, validated where possible by pathology or surgical report.Result(s) Three thousand ninety-six (94%) of the twins and 145 (82%) of the physicians responded to the survey. Two hundred fifteen twins reported endometriosis, for a prevalence rate of .07 among question respondents. Tetrachoric twin pair correlations for self-reported endometriosis (MZ: n = 854 and DZ: n = 493) were rMz = .46+/-.09 and rDz = .28 +/-.13. When available medical and pathology reports were included, they changed to rMz =.52 +/-.08 and rDZ = .19+/-.16, suggesting that 51% of the variance of the latent liability to endometriosis may be attributable to additive genetic influences.Conclusion(s) These findings support the hypothesis that genes influence liability to endometriosis.
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“However, studies in Australian twins, 45 in the Icelandic population, 43 and in rhesus macaques 49 provide strong evidence for a genetic contribution to the disease with the heritability of endometriosis estimated to be around 50%. 45”
From Defining Future Directions for Endometriosis Research: Workshop Report From the 2011 World Congress of Endometriosis in Montpellier, France (2013) · cites this paper as [45]
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“In twin sisters a prevalence of endometriosis (158-161) and age of onset (162) are similar.”
From Pathogenesis of deep endometriosis (2017) · cites this paper as [161]
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Metadata
- Authors
- Treloar, S. A., O’Connor, D. T., O’Connor, V. M., & Martin, N. G.
- Affiliations
- QIMR Berghofer Medical Research Institute (AU)
- Corresponding author
- Treloar, Susan A
- Venue
- Fertility and Sterility
- Publisher
- Elsevier BV
- Published
- 1999-04
- Volume
- 71
- Issue
- 4
- Pages
- 701-710
- ISSN
- 0015-0282 (ISSN-L)
- OpenAlex
- W2097313599
- Cited by
- 353
- References
- 60
- Citations by year
- 2026: 13 · 2025: 20 · 2024: 11 · 2023: 23 · 2022: 18 · 2021: 18 · 2020: 19 · 2019: 28 · 2018: 19 · 2017: 19 · 2016: 15 · 2015: 13 · 2014: 11 · 2013: 14 · 2012: 11
- FWCI
- 7.54
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Fertility and Sterility (publishedVersion)
- PubMed (publishedVersion)
- Funders
- University of Queensland
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Obstetrics and Gynecology › Gynecological conditions and treatments
- Health Sciences › Medicine › Obstetrics and Gynecology › Ectopic Pregnancy Diagnosis and Management
- Keywords
- endometriosis, genetic susceptibility, twin concordance, monozygotic twins, dizygotic twins, heritability, prevalence, twin registry, additive genetic effects
- MeSH terms
- Adolescent, Adult, Australia, Diseases in Twins, Endometriosis, Female, Humans, Male, Middle Aged, Models, Genetic, Phenotype, Surveys and Questionnaires, Risk Factors, Twins, Dizygotic, Twins, Monozygotic
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