Association of eNOS (G894T, rs1799983) and KCNJ11 (E23K, rs5219) gene polymorphism with coronary artery disease in North Indian population

Abstract

Background: Endothelial nitric oxide synthase (eNOS) and potassium voltage-gated channel subfamily J member 11 (KCNJ11) could be the candidate genes for coronary artery disease (CAD). This study investigated the relationship of the eNOS (rs1799983) and KCNJ11 (rs5219) polymorphisms with the presence and severity of CAD in the North Indian pop- ulation. Methods: This study included 300 subjects, 150 CAD cases and 150 healthy controls. Single nucleotide polymorphism was evaluated by Polymerase chain reaction and Restriction fragment length polymorphism (PCR-RFLP). Analysis was performed by SPSS (version 21.0). Results: We observed that KK genotype of KCNJ11E23K (rs5219) polymorphism (P=0.0001) genotypes and K allele (P=0.0001) was found to be a positive risk factor and strongly associated with CAD. In the case of eNOSG894T (rs1799983) there was no association found with CAD. Conclusion: These results illustrate the probability of associations between SNPs and CAD although specific genetic pol- ymorphisms affecting ion channel function and expression have still to be clarified by further investigations involving larger cohorts. Keywords: Coronary Artery Disease (CAD); endothelial nitric oxide synthase (eNOS); potassium voltage-gated channel subfamily J member 11 (KCNJ11); gene polymorphism.