Association of Single Nucleotide Polymorphisms of Two Enzymes of RAAS with Essential Hypertension

Discovery of a pivotal role of renin and ACE (rate-limiting and key components of RAAS) in blood pressure homeostasis in experimental and clinical studies have suggested a prospective importance of molecular variants of these as a rational candidate for unravelling the genetic basis of essential hypertension. To evaluate the prototype and alliance of two single nucleotide polymorphisms (SNPs), namely an insertion/deletion polymorphism in intron 16 of the ACE gene and REN MboI polymorphism at the locus intron 9 in essential hypertension. Genotyping was performed by PCR-RFLP method for characterization of ACE I/D and REN Mbol (10631A>G) gene polymorphism in a total of 67 hypertensive and 70 normotensive participants. No departure from Hardy-Weinberg equilibrium was observed in either cases or controls for both the studied SNPs. An increased frequency of mutant allele of ACE (p: 0091) and MboI of renin (p: 0.0239) was observed among patients affected with hypertension, which resulted in significant difference in genotypic (p [less than or equal to] 0.033) and allelic (p [less than or equal to] 0.005) distribution between cases and controls. A significant association was found for A/A variant (p: 0.0159) of MboI of renin gene and D/D variant (p: 0.0061) of ACE gene with essential hypertension and is substantiated by a statistically significant increase in odds of hypertension (renin: OR: 2.07; CI: 1.32-2.28; p: 0.03; ACE: OR: 2.19; CI: 1.47-2.51; p: 0.02) in multiple logistic regression analysis. Diallelic (I/D) polymorphism in ACE gene and genotype-associated differences in renin gene have functional consequences and thus can be used as a valuable genetic indicator for the susceptibility to essential hypertension.