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Endometriosis and Genetic Polymorphisms

Falconer, Henrik MD*; D’Hooghe, Thomas PhD; Fried, Gabriel PhD

Obstetrical & Gynecological Survey: September 2007 - Volume 62 - Issue 9 - p 616-628
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, cell-cycle 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.

*Specialist (in Obstetrics and Gynecology) and †Professor, Department of Woman and Child Health, Karolinska Institute, Stockholm, Sweden; and ‡Professor, Leuven University Fertility Center, University of Leuven, Leuven, Belgium

Chief Editor’s Note: This article is part of a series of continuing education activities in this Journal through which a total of 36 AMA/PRA category 1 credits™ can be earned in 2007. Instructions for how CME credits can be earned appear on the last page of the Table of Contents.

Dr. D’Hooghe has disclosed that he was/is the recipient of direct Grant/Research support from Serono and Pfizer and was a Consultant/Advisor for Ferring. All other authors have disclosed that they have no financial relationships with or interests in any commercial companies pertaining to this educational activity.

This study was supported by the Swedish Science Council (72X-14952, to G.F.) and Karolinska Institutets Fonder.

Lippincott Continuing Medical Education Institute, Inc. has identified and resolved all faculty conflicts of interest regarding this educational activity.

Reprint requests to: Gabriel Fried, Department of Woman and Child Health, Division of Obstetrics and Gynecology, Karolinska Hospital, S-171 76 Stockholm, Sweden. E-mail:

© 2007 Lippincott Williams & Wilkins, Inc.