Abstract
Background: In the modern age, the problem of heart disease is increasing day by day which cause even more deaths than cancer. The study was designed to evaluate the polymorphism and expressional analysis of genes CDKN2B and ADIPOQ in cardiovascular patients. Methodology: Blood samples of 300 cardiovascular patients and 300 controls were collected from Gannan and other hospitals of Pakistan. For polymorphism analysis, DNA was extracted followed, by conventional PCR to amplify the variants rs4977574, rs2383206, and rs2241766 of genes CDKN2B and ADIPOQ, respectively. For expressional analysis, mRNA was extracted from whole blood and converted into cDNA, followed by qPCR. Results: The results show that heterozygous (AG) of rs4977574 of the CDKN2B gene showed highly significant association with 2-folds increased risk of cardiovascular disease (CVD) (OR = 2.03; 95% Cl = 1.26-3.25; p < 0.0033) while heterozygous (AG) of rs2383206 of the gene CDKN2B exhibited significant association but with decreased risk of CVD (OR = 0.47; 95% Cl = 0.29-0.75; p < 0.0017). The results of ADIPOQ polymorphism rs2241766 show that the heterozygous genotype (TG) showed a significant association with a decreased risk of CVD (OR = 0.63; 95% CI = 0.39-1.01; p < 0.05) while the homozygous mutant genotype (GG) of rs2241766 again showed a highly significant association with CVD which increased the risk of CVD by 2-folds (OR = 1.77; 95% CI = 1.11-2.80; p < 0.0150). The results of expressional analysis show that CDKN2B is significantly overexpressed in cardiovascular patients, while the gene ADIPOQ showed significant downregulation. Conclusion: The findings show that the CDKN2B and ADIPOQ gene polymorphisms significantly raise the risk for CVD, while their expression shows a significant correlation with CVD.