Association of Mbo I-RFLP at the Renin Locus (rs2368564) with Essential Hypertension

Several lines of experimental and clinical evidence have alluded a pivotal role of renin in blood pressure homeostasis and therefore a relevance of molecular variants of the renin gene and essential hypertension have been speculated. This study was designed to evaluate the pattern, alliance and risk of renin Mbo I (10631A>G; rs2368564) polymorphism at the locus intron 9 for a possible role in modulating essential hypertension in adult population from Gujarat (India). A total of 257 consecutively enrolled essential hypertensive patients and 270 controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism method for the selected marker. Suitable descriptive statistics was used for different variables. Genotypic (x 2 10.43, p 0.0054) and allelic (x 2 11.46, p 0.0007) distribution of this SNP displayed significant differences between cases and controls with an increased frequency of the A allele (x 2 6.275; p 0.0122) and A/A geno-type (x 2 8.247; p 0.0041) in hypertensive individuals. However, it showed no deviation from Hardy–Weinberg equilibrium in either affected or control group. A significant association was found in the A/A variant of rs2368564 with essential hypertension ( p 0.0032), along with a statistically significant increase in odds of hypertension (OR 1.69; CI 1.46–2.28; p 0.02), even after confounding factors were adjusted in multiple logistic regression analysis and is substantiated by inter-genotypic variations in the mean systolic and diastolic blood pressure in patients. In conclusion, renin 10631A>G gene mutation at the ninth intron play critical roles in BP (dys)regulation and can be implicated in an individual’s susceptibility for hypertension.