Endometriosis and genetic polymorphisms

Obstet Gynecol Surv. 2007 Sep;62(9):616-28. doi: 10.1097/01.ogx.0000279293.60436.60.


Endometriosis is a benign gynecological disease with an unclear pathophysiology characterized by ectopic endometrium causing endometrium-like inflammatory lesions outside the uterine cavity. Recently, a number of studies have investigated genetic polymorphisms as a possible factor contributing to the development of endometriosis. In this review, we have summarized current data regarding genes with nucleotide polymorphisms investigated with regard to endometriosis. We searched PubMed for publications on endometriosis and polymorphism and found 108 publications between January 1979 and September 2005. These were classified according to the type of genetic polymorphism investigated and whether the result favored or did not favor association with endometriosis. We found a strikingly large amount of conflicting results. About 50% of the reviewed studies demonstrated positive correlations between different polymorphisms and endometriosis. This relation is most clearly seen in groups 1 (cytokines and inflammation), 2 (steroid-synthesizing enzymes and detoxifying enzymes and receptors), 4 (estradiol metabolism), 5 (other enzymes and metabolic systems), and 7 (adhesion molecules and matrix enzymes). Group 8 (apoptosis, cellcycle regulation, and oncogenes) seemed to be negatively correlated with the disease, whereas group 3 (hormone receptors), 6 (growth factor systems), and especially 9 (human leukocyte antigen system components) showed a relatively strong correlation. The review indicates that polymorphisms may have a limited value in assessing possible development of endometriosis.

Target audience: Obstetricians & Gynecologists, Family Physicians.

Learning objectives: After completion of this article, the reader should be able to recall the complexity of attempting to link endometriosis to single nucleotide polymorphisms (SNPs), explain that the literature is varied on results and recommendations and is population specific, and state that there are some SNP relationships that are clinically stronger than others.

Publication types

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

MeSH terms

  • Endometriosis / genetics*
  • Female
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Polymorphism, Single Nucleotide / genetics*
  • Statistics as Topic