Genetic etiology of coronary artery disease considering NOS 3 gene variant rs1799983

Reduced production of nitric oxide due to rs1799983 single nucleotide polymorphism in nitric oxide synthase 3 gene (NOS3) may enhance the risk of coronary artery disease. The association of rs1799983 polymorphism with coronary artery disease was investigated in the local population of Pakistan. Study consisted of 376 individuals, out of which 198 were coronary artery disease patients and 178 were normal healthy individuals. Allele-specific polymerase chain reaction (PCR) based strategy was used for the detection of different genotypes of rs1799983 polymorphism. PCR amplification results were obtained for 354 samples. Frequency of T allele was higher as compared to G allele in our population. Strong association between rs1799983 and coronary artery disease was observed (p<0.01). TT genotype was found to enhance 5.717 times the risk of coronary artery disease (odds ratio (OR): 5.717; 95% confidence interval (95% CI) 3.586-9.115). On the basis of present results, it can be concluded that rs1799983 is strongly associated with coronary artery disease in our population and TT genotype of this polymorphism enhanced the risk of coronary artery disease in Pakistani population.