Identification of genetic markers associated with coronary artery disease in Pakistani Pashtun population: A case–control association study

Genetic makers play a critical role in coronary artery disease (CAD) susceptibility. This study investigates the association between angiotensin-converting enzyme (ACE) insertion/deletion (I/D) and endothelial nitric oxide synthase (eNOS)-786 T > C polymorphism with CAD in the Pashtun ethnic population of Khyber Pakhtunkhwa, Pakistan. This case-control study was conducted on 1000 individuals, including 500 CAD patients and 500 healthy controls. Genotyping of ACE I/D and eNOS-786 polymorphisms was performed using polymerase chain reaction and polymerase chain reaction-restriction fragment length polymorphism techniques. The association of polymorphisms with CAD risk was analyzed using logistic regression to determine odds ratios (ORs) with 95% confidence intervals (CIs). The ACE deletion (D) allele was significantly more frequent in CAD patients than in controls (OR = 4.76, 95% CI: 3.21-7.08, P < .001), indicating a strong genetic predisposition. Similarly, individuals with the ACE DD genotype had a markedly higher risk of CAD (OR = 6.42, 95% CI: 3.89-10.59, P < .001) compared to individuals with II genotype. In contrast, no significant association was observed between eNOS-786 polymorphism and CAD risk (OR = 1.08, 95% CI: 0.72-1.61, P = .98). The ACE I/D polymorphism, particularly the DD genotype, is strongly associated with an increased risk of CAD in the Pashtun population, while eNOS-786 polymorphism does not appear to be a significant risk factor. These findings underscore the importance of genetic screening for early risk assessment and developing intervention therapies according to genetic make-up of individuals for more effective disease prevention.