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Human Reproduction Update Advance Access originally published online on September 19, 2008
Human Reproduction Update 2009 15(1):97-118; doi:10.1093/humupd/dmn040
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© The Author 2008. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org
The online version of this article has been published under an open access model. Users are entitled to use, reproduce, disseminate, or display the open access version of this article for non-commercial purposes provided that: the original authorship is properly and fully attributed; the Journal and Oxford University Press are attributed as the original place of publication with the correct citation details given; if an article is subsequently reproduced or disseminated not in its entirety but only in part or as a derivative work this must be clearly indicated. For commercial re-use, please contact journals.permissions@oxfordjournals.org

Functional genetic polymorphisms and female reproductive disorders: Part II—endometriosis

C.B. Tempfer1,5, M. Simoni2, B. Destenaves3 and B.C.J.M. Fauser4

1 Department of Obstetrics and Gynecology, Medical University, 1090 Vienna, Austria 2 Department of Medicine, Endocrinology and Metabolism, University of Modena and Reggio Emilia, I-41100 Modena, Italy 3 Stratified Medicine Group, Merck Serono International S.A, 1202 Geneva, Switzerland 4 Department of Reproductive Medicine and Gynecology, University Medical Center, 3508 GA Utrecht, The Netherlands

5 Correspondence address. E-mail: clemens.tempfer{at}meduniwien.ac.at

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.

Key words: endometriosis / female reproduction / genetic polymorphisms / detoxification / sex steroids

Received on March 11, 2008; revised July 1, 2008; accepted on July 16, 2008


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