Endothelin 1 gene variant rs5370 and risk of coronary artery disease in the local population of Pakistan, a case-control study

Endothelin 1 is a potent vasoconstrictor peptide.Variation in its gene may modulate the chances of developing coronary artery disease.The present study investigated the role of endothelin 1 genetic variant rs5370 in association with the risk of coronary artery disease in the local population of Pakistan.Study consisted of 318 individuals, out of which 178 were coronary artery disease patients and 140 were normal healthy individuals.Allele specific PCR based strategy was used for the detection of different genotypes of rs5370 polymorphism.T allele frequency was high in coronary artery disease patients as compared to G allele frequency.A strong association was observed between this polymorphism and coronary artery disease (chi square=76.34,p<0.001).GG genotype showed the protective effects (OR: 0.146, 95% CI: 0.088-0.240).Discordantly, TT genotype increased 8.818 times the risk of coronary artery disease (OR: 8.818, 95% CI 5.207-14.933).No significant association was noticed between GT genotype and coronary artery disease (OR: 0.644 95% CI 0.318-1.306).The present findings suggest the important role of rs5370 in modulating the chances of coronary artery disease.TT genotype was found as a risk factor for coronary artery disease in the local population of Pakistan.