BACKGROUND:The vitamin D receptor (VDR) gene serves as a good candidate gene for susceptibility to several diseases. The gene has a critical role in regulating the renin-angiotensin system (RAS) influencing the regulation of blood pressure. Hence determining the association of VDR polymorphisms with essential hypertension is expected to help in the evaluation of risk for the condition.AIM:The aim of this study was to evaluate association between VDRFok I polymorphism and genetic susceptibility to essential hypertension.MATERIALS AND METHODS:Two hundred and eighty clinically diagnosed hypertensive patients and 200 normotensive healthy controls were analyzed for Fok I (T/C) [rs2228570] polymorphism by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) analysis. Genotype distribution and allele frequencies in patients and controls, and odds ratios (ORs) were calculated to predict the risk for developing hypertension by the individuals of different genotypes.RESULTS:The genotype distribution and allele frequencies of Fok I (T/C) [rs2228570] VDR polymorphism differed significantly between patients and controls (χ2 of 18.0; 2 degrees of freedom; P = 0.000). FF genotype and allele F were at significantly greater risk for developing hypertension and the risk was elevated for both the sexes, cases with positive family history and habit of smoking.CONCLUSIONS:Our data suggest that VDR gene Fok I polymorphism is associated with the risk of developing essential hypertension
The present study revealed a strong synergistic effect of CYP11B2 C-344T and IC polymorphisms causing susceptibility to EHT and haplotype H1 (-344T-Conv-Lys173) as the risk-conferring factor for hypertension predisposition.
Background: Renin is a rate-limiting enzyme of the renin-angiotensin-aldosterone system (RAAS) that plays a crucial role in the regulation of blood pressure. The renin gene has been suggested as a marker for genetic predisposition to essential hypertension (EHT) in humans. The purpose of the study is to explore the association of a genetic marker of renin gene Mbo I polymorphism with EHT in the South Indian population. Methods: A total of 279 hypertensive and 200 normotensive subjects were genotyped for REN Mbo I polymorphism (RFLP) using the PCR-restriction fragment length polymorphism method.Results: There were no significant differences in the distribution of genotypes and alleles for REN gene Mbo I polymorphism between hypertensive cases and controls (p>0.05). The genotypic and allele frequencies were in Hardy-Weinberg equilibrium both in cases and controls. Females with Mbo I AA+GA genotypes had 1.87-fold higher risk to develop hypertension as compared with those with GG genotype (odds ratio 1.87; 95% confidence interval = 0.98-3.56, p = 0.057). Conclusions: Our results indicate that renin gene Mbo I site polymorphism is not associated with blood pressure levels and risk of hypertension. However, the present study demonstrates risk for females who are carriers of REN Mbo I A allele for developing essential hypertension.
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