Abstract Dysregulation of endothelial nitric oxide synthase (eNOS) activity causes the reduction in the production of nitric oxide (NO) which is an early indicator of type 2 diabetes (T2D) and cardiovascular complications. The present study evaluates the association of ?786 T?>?C, 894 G?>?T, and 4a/b polymorphisms of eNOS gene in total of 1223 individuals enrolling 307 coronary artery disease (CAD) cases, 486 T2D cases with ( n ?=?170) and without ( n ?=?316) CAD as the secondary macrovascular complication, and 430 healthy controls from Punjab (North-West India). Genotyping of ?786 T?>?C and 894 G?>?T polymorphisms was done with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and the genotyping of 4a/b insertion/deletion polymorphism was done by PCR. The minor allele frequency (MAF) of ?786 T?>?C polymorphism was higher in CAD (21.8?), T2D + CAD (22.4?), and T2D cases (18.4?) as compared to healthy controls (17.6?). However, in single-locus analysis, no significant results were obtained for eNOS polymorphisms in any of the studied groups. Significant association of C-b-G haplotype with the risk of both CAD P ?=?0.003, odds ratio (OR)?=?1.89 (1.04–3.45) and T2D P ?=?0.019, OR?=?1.69 (0.92–3.13) was observed. Diplotype analysis showed that TbG/CbG haplotype combination conferred risk towards CAD and T2D P ?=?0.01, OR?=?2.04 (1.18–3.57); P ?=?0.006, OR?=?2.13 (1.22–3.57), respectively. Furthermore, phenotypic parameters like waist circumference, high-density lipoprotein, and waist to height ratio are significantly associated with 894 G?>?T genotypes among CAD patients. In conclusion, the eNOS polymorphisms did not provide any conclusive result individually; however, their interactive effect gives some insights towards eNOS role in the population of Punjab.
展开▼
