Gender-specific effect of estrogen receptor-1 gene polymorphisms in coronary artery disease and its angiographic severity in Chinese population.

Abstract Background The role of common polymorphisms of the estrogen receptor-1 in coronary artery disease (CAD) and it association with angiographic severity reminds conflicting in sexes and different races. Methods Two-hundred ten angiographically defined Chinese CAD patients and 174 control subjects were enrolled. DNA was obtained and the polymorphisms were analyzed by the polymerase chain reaction. The region containing the PvuII T/C and the XbaI A/G sites was amplified. PCR product was cleaved with the restriction endonucleases. Results No significant differences in PvuII and XbaI genotype and allele frequencies were noted between the CAD and controls.However, when stratified by gender, we noticed the PvuII genotype and allele frequencies were significantly different between CAD and controls, but in male group only, not in female group. Diabetes, hypertension, high LDL levels and the PvuII CC genotype were independent risk factors for CAD. PvuII CC was associated with the angiographic severity of CAD measuring by the number of diseased vessels as well. For XbaI, no association was found with the CAD susceptibility before and after gender stratification. Conclusion This study revealed a gender-specific effect of PvuII polymorphism in Chinese CAD subjects. PvuII gene polymorphisms affect CAD susceptibility in man only. The PvuII CC is a risk factor for CAD and it is associated with angiographic CAD severity.