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)-beta 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-beta 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-beta gene +1730 G/A polymorphism may be associated with pathophysiologic aberrancies involved in PCOS.