Estrogen receptor beta gene +1730 G/A polymorphism in women with polycystic ovary syndrome

Objective: To investigate whether the +1730 G/A polymorphism in the estrogen receptor (ER)-β gene is associated with susceptibility to polycystic ovary syndrome (PCOS). Design: Case-control study. Setting: University Department of Obstetrics and Gynecology. Patient(s): Women with (n = 138) or without (n = 290) PCOS. Intervention(s): Genotyping was performed by polymerase chain reaction-restriction fragment-length polymorphism analysis. Main Outcome Measure(s): Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ER-β gene. Result(s): There was a significant difference in the genotype distribution between the patients with PCOS and controls (non-GG rates were 22.1% for patients with PCOS and 36.6% for controls). There was also a significant difference in the G and A allele frequencies between these two groups (11.7% in patients vs. 19.1% in controls with A allele). But in patients with PCOS there were no significant differences in the serum levels of hormones, biochemical variables, or ovarian morphology between GG and non-GG genotypes. Conclusion(s): The ER-β gene +1730 G/A polymorphism may be associated with pathophysiologic aberrancies involved in PCOS.