Association between ESR1 and ESR2 gene polymorphisms and hyperlipidemia in Chinese Han postmenopausal women

Estrogen was considered to be an important protective factor for cardiovascular diseases in women. Genetic association studies suggested that variations of ESR1and ESR2 genes might have a potential role in lipid profile. Our study aimed to investigate the association of single-nucleotide polymorphisms (SNPs) of ESR1 and ESR2 with hyperlipidemia in Chinese Han postmenopausal women. A total of 443 postmenopausal women aged between 55 and 71 years were recruited from Shanghai, China for a case-control study (154 women with hyperlipidemia and 289 controls). We measured plasma estradiol concentration, glucose and lipid profile levels, evaluated their lifestyle and sequenced four SNPs, namely PvuII (rs2234693) and XbaI (rs9340799) of ESR1 and 1082A>G (rs1256049) and 1730A>G (rs4986938) of ESR2. PvuII (rs2234693) and XbaI (rs9340799) showed significantly different distributions between cases and controls (P=0.002 and P=0.023, respectively). In addition, haplotypes constructed from PvuII-XbaI were also associated with hyperlipidemia (global P=0.012). Haplotypes T-A (P=0.005, odds ratio (OR) 1.52, 95% confidence interval (95% CI): 1.13-2.05) and C-G (P=0.010, OR 0.62, 95% CI: 0.43-0.89) had susceptible and protective effects, respectively. 1082A>G (rs1256049) and 1730A>G (rs4986938) showed no statistical association with hyperlipidemia. In conclusion, our results suggested that ESR1 might have a potential role in hyperlipidemia risk, independent of age, estradiol level, body mass index and lifestyle in Chinese Han postmenopausal women.