Association of estrogen receptor gene polymorphisms with endometriosis

Objective: To explore the association of the estrogen receptor two-allele ( point) polymorphism and multiallele (microsatellite) polymorphism with endo metriosis. Design: Case-control study. Setting: Genetics and Endoscopy Unit, Department of Obstetrics and Gynecolo gy, Ioannina University Hospital, Ioannina, Greece. Patient(s): Fifty-seven women with surgically and histologically diagnosed endometriosis of stages I-IV. Intervention(s): Diagnostic laparoscopy. Main Outcome Measure(s): Frequency and distribution of the estrogen recepto r gene polymorphisms. Result(s): There was a statistically significant difference between the pat ients and the controls in the frequency of the two-allele Pvu II polymorphi sm (0.72 vs. 0.49) and in the median repeats of the (TA)n multiallele polym orphism (15 vs. 20 repeats). In both groups, linkage was found between the fewer (TA)n repeats (range, 12-19) and the positive Pvu II polymorphism. Conclusion(s): The variability of the estrogen receptor gene likely contrib utes to the pathogenesis of endometriosis. (Fertil Steril(R) 1999;72:164-6. (C) 1999 by American Society for Reproductive Medicine.)