Cited by 353Endometriosis Research and TreatmentGynecological conditions and treatmentsEctopic Pregnancy Diagnosis and Management

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Genetic influences on endometriosis in an Australian twin sample

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Treloar, Susan A, O’Connor, Daniel T, O’Connor, Vivienne M, Martin, Nicholas G·1999·Fertility and Sterility

DOI 10.1016/s0015-0282(98)00540-8

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Abstract

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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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
ORCID: Treloar, Susan A
Martin, Nicholas G
Venue: Fertility and Sterility
Publisher: Elsevier BV
Published: 1999-04
Volume: 71
Issue: 4
Pages: 701-710
ISSN: 0015-0282 (ISSN-L)
DOI: 10.1016/s0015-0282(98)00540-8
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: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 8457 d)
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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Genetic influences on endometriosis in an Australian twin sample

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