Background: The potential role of ESR2 and its gene product ER-beta on the cardiovascular system is not yet well established. Recent observations indicate the involvement of ER-beta in the pathogenesis of cardiovascular disease (CVD), and the potential role of ESR2 gene polymorphisms as independent risk factors for CVD.

Objective: In this study, we aimed to investigate the possible association between the ESR2 AluI 1730G>A gene polymorphism with different CVD risk markers, such as body mass index (BMI), blood fibrinogen, glucose and insulin, homeostasis model assessment of insulin resistance and urinary F2-isoprostanes, in 89 postmenopausal women.

Results: Genotyping for ESR2 1730G>A polymorphism showed the higher prevalence of heterozygous GA1730 genotype than either wild-type GG1730 or homozygously mutated AA1730 genotype. Statistical analysis of between-groups variability revealed that mean levels of the examined CVD risk markers, except BMI and fibrinogen, were within the normal range in all subjects grouped to different ESR2 1730G>A genotype. Interestingly, only fibrinogen levels were statistically different in AA1730 carriers compared with other genotypes. The analysis of genotype relative risk showed a significant increase in plasma fibrinogen levels in AA1730 carriers compared with GG + GA ones.

Conclusions: The present data strongly indicate that the ESR2 AA1730 genotype is a risk factor for elevation of plasma fibrinogen in postmenopausal women.