Association of aldosterone synthase CYP11B2 (-344C/T) gene polymorphism with essential hypertension and left ventricular hypertrophy in the Egyptian population

Background and Objectives: Essential hypertension is a complex progressive cardiovascular disorder. Renin–angiotensin aldosterone system (RAAS) plays a major role in blood pressure regulation. Aldosterone, synthesized in the adrenal cortex by aldosterone synthase is encoded by the CYP11B2 gene. This case-control study was aiming to investigate the relationship between the aldosterone synthase gene (CYP11B2) biallelic polymorphism in the promoter at position −344 (−344C/T) with essential hypertension and left ventricular hypertrophy in the Egyptian population.Methods: This study was conducted on 100 hypertensive patients (group I) and 50 healthy control subjects (group II). Serum aldosterone, plasma renin, ARR levels were investigated. Echocardiography was done to evaluate LV dimensions. Genotyping of the CYP11B2 gene was performed by PCR/RFLP confirmed by direct sequencing.Results: Our study revealed that CYP11B2 (−344T) allele was significantly higher than (−344C) allele in hypertensive patients as compared to healthy control (OR-2.51; 95% CI:1.3–3.5; P = 0.002) and −344TT genotype was associated with increased LVMI as compared with −344CC genotype (P = 0.001).Conclusion: A Significant association was observed between the CYP11B2 (−344C/T) polymorphism and −344T allele and essential hypertension in the Egyptian population. Also, we found that the CYP11B2 −344C/T polymorphism and −344T allele are associated with left ventricular hypertrophy which may predispose to cardiovascular complications of hypertension.