Studies in spontaneously hypertensive rat had revealed an elevated level of ACE gene expression in the tissues and is substantiated by experimental clinical studies for a positive correlation between ACE I/D polymorphism and hypertension. Aim: To determine whether the polymorphic variant of ACE gene in intron 16 confers susceptibility to essential hypertension. I/D polymorphism at the locus intron 16 of the ACE gene were amplified from the genomic DNA of the total 571 (hypertensive patients, n: 279; controls, n: 292) participants using polymerase chain reaction and gel electrophoresis methods and were examined in a case-control approach. Suitable descriptive statistics was used for different variables. Result revealed significant heterogeneity under the allele (p: 0.0002) and genotype (p: 0.0001) contrast in hypertensive patients than in normal controls, with an increased frequency of D allele (62.72%; p < 0.0001; OR: 1.8144; 95% CI: 1.4327-2.2979) and DD genotype (41.93%; p: < 0.0001). A significant association was found in the DD variant with disease phenotype (p: 0.0018, 95% CI: 1.3303-3.4907; OR: 2.1549; Table 31) and is substantiated by the data of multivariate analysis, demonstrating a statistically significant increase in odds of hypertension with the ACE D/D genotype (OR: 2.09; 95% CI: 1.24-2.91). Conspicuously, subgroup analysis by gender did not change this pattern of results. Albeit the allele distribution resulted in a higher frequency of the D/D genotype in the cases than controls, testing genetic equilibrium between the observed and expected genotypes using Hardy-Weinberg equilibrium showed ACE gene variants were confirming to the law in hypertensive as well as in non-hypertensive participants. I/D polymorphism in the angiotensin-I-converting enzyme gene at the 16th intron can be useful for outcome predictions during diagnostic processes can be implicated in an individual's propensity for hypertension and thus implies that genetic variants of ACE I/D might serve as a predictor for the susceptibility to hypertension.
Keywords: Angiotensin converting enzyme; Hypertension; Polymerase chain reaction; Polymorphism.
© Association of Clinical Biochemists of India 2020.