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

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

“…On the other hand, men are not disturbed by lower ESR1, and are even more sensitive to a higher estrogen effect, namely, with the C allele, such as in CAD. 20 Interestingly, this effect is probably driven not only endogenously but also exogenously by phytoestrogens. It was reported that soy protein intake, accompanied by soy-isoflavone, had a positive impact on hyperglycemia and metabolic syndrome in men, but had a negative impact in women.…”

Analysis of Sex Hormone Genes Reveals Gender Differences in the Genetic Etiology of Blood Pressure Salt Sensitivity: The GenSalt Study

“…30 Neither study identified corresponding associations among their female participants. 29,30 Male-specific associations of ESR1 variants have also been reported for cardiovascular diseases, 31,37 with Shearman and colleagues reporting a 2.9-fold increased risk of myocardial infarction among male carriers of the rs2234693 minor allele compared with those homozygous for the major allele (P < 0.001). 37 Despite the accumulating evidence from genetic studies that suggest gender differences in the association between ESR1 and BP-related phenotypes, there is a paucity of physiologic research to support such relationships.…”

“…19 Estrogen binding to ESR1 has been shown to cause rapid vasodilation of blood vessels through the activation of endothelial nitric oxide synthase and also has long-term effects on gene expression in vascular cells. [25][26][27] ESR1 variants have already been linked to SBP, DBP, hypertension, hypertensive pregnancy, left ventricular hypertrophy, and cardiovascular diseases, [28][29][30][31][32][33][34][35][36][37] with marker rs2234693 (widely known as the PvuII variant) by far the most commonly associated SNP in the ESR1 gene. [29][30][31]33,34,36,37 We examined rs2234693 for its association with salt-sensitivity phenotypes in the current study, observing minimum raw P values of 0.04 and 0.07 for its association with DBP responses to low-and high-sodium interventions, respectively.…”

ESR1 gene polymorphisms PvuII (rs2234693T>C) and XbaI (rs9340799A>G) may not be directly correlated with cardiovascular disease risk

“…The PvuII restriction site polymorphism is associated with rs2234693 (397T>C), while the XbaI restriction site polymorphism involves rs9340799 (351A>G) (Kunnas et al, 2010). Previous studies examining the contribution of the ESR1 polymorphisms PvuII (rs2234693T>C) and XbaI (rs9340799A>G) revealed that they were strongly correlated with CVD susceptibility (Xu et al, 2008;Boroumand et al, 2009) or that there were links with CVD in different study populations (Xing et al, 2013).In order to address these issues, a meta-analysis was performed based on previous reports to assess the associations between the ESR1 gene PvuII (rs2234693T>C) and XbaI (rs9340799A>G) polymorphisms and the risk of CVD.…”