Heritability of endometriosis

Fertil Steril. 2015 Oct;104(4):947-952. doi: 10.1016/j.fertnstert.2015.06.035. Epub 2015 Jul 22.


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.

Keywords: Concordance; endometriosis; heritability; twins.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Twin Study

MeSH terms

  • Adult
  • Aged
  • Cross-Sectional Studies
  • Diseases in Twins / epidemiology
  • Diseases in Twins / genetics
  • Endometriosis / epidemiology
  • Endometriosis / genetics*
  • Female
  • Genetic Predisposition to Disease*
  • Humans
  • Middle Aged
  • Models, Genetic
  • Quantitative Trait, Heritable
  • Twins, Dizygotic / genetics
  • Twins, Dizygotic / statistics & numerical data
  • Twins, Monozygotic / genetics
  • Twins, Monozygotic / statistics & numerical data
  • Young Adult