Estrogen receptor 1 gene polymorphisms and coronary artery disease in the Brazilian population

Abstract

We examined the association of three established single nucleotide polymorphisms, IVS1-397T>C, IVS1-351A>G, and +261G>C, in the ESR1 gene with the prevalence and severity of coronary atherosclerosis in a southern Brazilian population of European ancestry. Three hundred and forty-one subjects (127 women and 214 men) with coronary artery disease (CAD) were classified as having significant disease (CAD+ patient group) when they showed 60% or more luminal stenosis in at least one coronary artery or major branch segment at angiography; patients with 10% or less luminal stenosis were considered to have minimal CAD (CAD-patient group). The control sample consisted of 142 subjects (79 women and 63 men) without significant disease, in whom coronary angiography to rule out the presence of asymptomatic CAD was not performed. The polymorphisms were investigated by polymerase chain reaction followed by restriction analyses. In the male sample, the +261G>C*C allele was more frequent in CAD+ than CAD-subjects (8 versus 1%, P = 0.024). Homozygosity for the C allele of the IVS1-397T>C polymorphism was also significantly associated with increased CAD severity (OR: 2.99; 95% CI = 1.35-6.63; P = 0.007). In agreement with previous findings, these results suggest that the IVS1-397T>C*C allele was associated with CAD severity independent of gender, whereas the association of the +261G>C variant with CAD was observed in males only. The relation between ESR1 variation and CAD may influence clinical decisions such as the use of hormone therapy, and additionally will be helpful to identify the genetic susceptibility determinants of cardiovascular disease development.

Estrogen receptor 1 gene polymorphisms in premenopausal women: interaction between genotype and smoking on lipid levels

“…In a previous study, we detected an association of +261*C allele with cardiovascular disease prevalence in men (17); therefore, we hypothesize that the association observed might occur due to an association between this SNP with lipid levels. In the present study, we detected a significant smoking *+261G>C interaction on HDL-C levels.…”

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

“…After further assessing the remaining articles, 193 studies were excluded for the following reasons: 15 for noncase-control study, 6 for duplicate publications or unpublished articles, 141were irrelevant to CVD, 30 were irrelevant to ESR1, and 1 contained incomplete data or weakly correlated data. Finally, 10 studies were incorporated in this meta-analysis (Koch et al, 2005;Mansur Ade et al, 2005;Almeida and Hutz, 2006;Alevizaki et al, 2007;Kjaergaard et al, 2007;Morgan et al, 2007;Xu et al, 2008;Karadağ et al, 2009;Lluís-Ganella et al, 2009;Roszkowska-Gancarz et al, 2010). The 10 eligible studies were published from 2003 to 2014 and included a total of 7029CVD patients and 6901 healthy controls.…”

Estrogen receptor α gene PvuII polymorphism and coronary artery disease: a meta-analysis of 21 studies

“…The remaining 10 studies with 7951 patients and 14 957 controls were from Western countries (Shearman et al, 2003;Schuit et al, 2004;Koch et al, 2005;Mansur et al, 2005;Almeida and Hutz, 2006;Alevizaki et al, 2007;Kjaergaard et al, 2007;Yilmaz et al, 2007;Karadağ et al, 2009;Lluís-Ganella et al, 2009). Both population-based (PB) and hospitalbased (HB) studies were included in the analysis.…”

“…Shen et al (2012) showed that it conferred an increased risk of CAD in Chinese men. Almeida and Hutz (2006) also suggested that the ESR1 PvuII polymorphism was associated with CAD severity independent of gender. However, Matsubara et al (1997) found no significant association between the ESR1 c.454-397T>C polymorphism and CAD in a Japanese population.…”