Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis

Hum Reprod Update. Jan-Feb 2009;15(1):97-118. doi: 10.1093/humupd/dmn040. Epub 2008 Sep 19.


Background: Endometriosis has a strong genetic component, and numerous genetic studies have been reported.

Methods: We have systematically reviewed these studies and included 114 in our final selection.

Results: We found no consistent evidence linking endometriosis with specific polymorphisms in genes encoding inflammatory mediators, proteins involved in sex steroid metabolism, vascular function and tissue remodelling. Although a number of polymorphisms have been associated with endometriosis in selected populations, the associations have not been independently confirmed, either because only single studies were carried out on these markers/genes or because other studies reported no association. The most solid evidence linking specific polymorphisms to endometriosis came from studies investigating glutathione-S-transferase, a phase II detoxification enzyme. Carriage of the GSTT1 null deletion variant showed consistent association with endometriosis with a 29% increased risk; however, it cannot be excluded that this result was due to publication bias, and this association should be independently confirmed in large-scale, well-designed case-control studies.

Conclusions: The evidence of an association between genetic polymorphisms and endometriosis is weak. Carriage of the GSTT1 null deletion may moderately increase the risk of this disease. We suggest that the methodology of association studies should be improved in order to identify and validate associations in endometriosis.

Publication types

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

MeSH terms

  • Cytokines / genetics
  • Endometriosis / enzymology
  • Endometriosis / genetics*
  • Female
  • Genetic Predisposition to Disease
  • Gonadal Steroid Hormones / genetics
  • Humans
  • Polymorphism, Genetic*


  • Cytokines
  • Gonadal Steroid Hormones