Genetic influences on endometriosis in an Australian twin sample.

Fertil Steril. 1999 Apr;71(4):701-10. doi: 10.1016/s0015-0282(98)00540-8.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Adolescent
  • Adult
  • Australia
  • Diseases in Twins*
  • Endometriosis / genetics*
  • Endometriosis / pathology
  • Female
  • Humans
  • Male
  • Middle Aged
  • Models, Genetic
  • Phenotype
  • Risk Factors
  • Surveys and Questionnaires
  • Twins, Dizygotic
  • Twins, Monozygotic