Estrogen receptor β gene +1730 G/A polymorphism in women with endometriosis

Objective: To investigate whether the +1730 G/A polymorphism of the estrogen receptor beta (ER-beta) gene is associated with the risk of endometriosis in a Korean population. Design: Case-control study. Setting: University Department of Obstetrics and Gynecology. Patient(s): Women with (n = 239) or without (n = 287) endometriosis. Intervention(s): The +1730 G/A polymorphism of 3'-UTR of exon 8 in the ER-beta gene was assessed by polymerase chain reaction-restriction fragment-length polymorphism analysis utilizing digestion with AluI restriction enzyme. Main Outcome Measure(s): Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ER-beta gene. Results: The genotype distribution of the +1730 G/A polymorphism in the ER-fl gene was not different between the endometriosis patients and the controls (GIG of 74.9% vs. 72.5%, G/A of 25.1% vs. 26.1%, and A/A of 0.0% vs. 1.4%, respectively). There was also no difference in the G and A allele frequencies between the two groups (87.4% vs. 85.5%, and 12.6% vs. 14.5%, respectively). Even when the endometriosis cases were subdivided into American Society for Reproductive Medicine stage I-III, III, IV, and III-IV, no differences were found at all in the genotype distribution or allele frequencies between the two groups. Conclusion(s): Our results suggest that the +1730 G/A polymorphism of the ER-beta gene may not be associated with the risk of endometriosis in the Korean population, which was not the case in the Japanese population.