Fertility and Sterility
Volume 71, Issue 4 , Pages 701-710, April 1999

Genetic influences on endometriosis in an Australian twin sample☆

  • Susan A Treloar, Ph.D.

      Affiliations

    • Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    • Queensland Institute of Medical Research.
    • Corresponding Author InformationReprint requests: Susan A. Treloar, Ph.D., Queensland Institute of Medical Research, Post Office Royal Brisbane Hospital, Queensland 4029, Australia (FAX: 61-7-3362-0101.)
    • ,
  • Daniel T O’Connor (F.R.C.O.G.)

      Affiliations

    • Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    • St. Andrews Hospital, Brisbane.
    • ,
  • Vivienne M O’Connor (F.R.C.O.G.)

      Affiliations

    • Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    • Department of Obstetrics and Gynaecology, The University of Queensland, Brisbane.
    • ,
  • Nicholas G Martin, Ph.D.

      Affiliations

    • Cooperative Research Centre for Discovery of Genes for Common Human Diseases, Queensland Institute of Medical Research, Brisbane, Queensland, Australia
    • Queensland Institute of Medical Research.

Received 20 August 1998; received in revised form 25 November 1998; accepted 25 November 1998.

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.

Keywords:  Endometriosis, twins, genetic

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☆ Supported by the Australian Cooperative Research Centre for Discovery of Genes for Common Diseases, AMRAD Operations Pty. Ltd., the Mayne Bequest Fund (The University of Queensland), and the Australian Gynaecological Endoscopy Society.

PII: S0015-0282(98)00540-8

Fertility and Sterility
Volume 71, Issue 4 , Pages 701-710, April 1999

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