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 β (ER-β) 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-β 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-β gene.

Results

The genotype distribution of the +1730 G/A polymorphism in the ER-β gene was not different between the endometriosis patients and the controls (G/G 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–II, 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-β gene may not be associated with the risk of endometriosis in the Korean population, which was not the case in the Japanese population.

Key Words: Endometriosis, estrogen receptor β gene, +1730 G/A polymorphism