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

OBJECTIVE: Chronic anovulation is a core feature of polycystic ovary syndrome (PCOS). Estrogen plays a significant role in human ovulation and its action is mediated by estrogen receptor (ER)-α and ER-β. ER-β is known to play an important role in the regulation of follicular growth and oocyte development, and variation of the ER-β gene may be involved in ovulatory dysfunction. DESIGN: Genetic polymorphism analysis. MATERIALS AND METHODS: Analysis of +1730 G/A polymorphism in the ER-β gene was carried out using polymerase chain reaction–restriction fragment-length polymorphism analysis on DNA samples from 138 patients with PCOS diagnosed by 2003 ASRM/ESHRE consensus meeting guideline and 290 normal controls. RESULTS: There was a significant difference in the genotype distribution between the PCOS patients and controls (GG/non-GG rates were 77.9%/22.1% for the PCOS patients and 63.4%/36.6% for controls, respectively, p=.003). There was also a significant difference in the G and A allele frequencies between these two groups (88.3% in patients vs. 80.9% in controls with G allele, p=.009). But in PCOS patients, there were no significant differences in the serum levels of hormones or biochemical variables between GG and non-GG genotypes. CONCLUSIONS: Our current study provides a data for the protective effect of the A allele against PCOS and suggest that the ER-β gene +1730 G/A polymorphism might be a useful marker for determining genetic susceptibility to PCOS.