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

The aim of this meta-analysis was to evaluate the correlations between the estrogen receptor 1 (ESR1) gene polymorphisms PvuII (rs2234693T>C) and XbaI (rs9340799A>G) and the risk of cardiovascular disease (CVD). Case-control studies were screened and selected from a larger group of studies that were retrieved through a comprehensive search of scientific literature databases, which was complemented by manual searches. Data from studies selected were analyzed using the Comprehensive Meta-analysis 2.0 software. A total of 240 studies were initially retrieved and 10 studies were eventually included in the meta-analysis. These 10 case-control studies involved 7029 CVD patients (5001 myocardial infarction patients, 1223 coronary artery disease patients, 805 acute coronary syndromes patients) and 6901 healthy controls. We found no significant association between the PvuII (rs2234693T>C) and XbaI (rs9340799A>G) polymorphisms and CVD risk. We detected no significant associations under all genetic inheritance models tested, including the allele, dominant, homozygous, heterozygous, and recessive models, or for comparisons between the case group and control group (all P > 0.05). Our meta-analysis results strongly suggest that the ESR1 gene polymorphisms PvuII (rs2234693T>C) and XbaI (rs9340799A>G) are not associated with CVD risk.