Mutations and overexpression of P450 11B2 (also known as aldosterone synthase) can lead to hypertension, congestive heart failure, and diabetic nephropathy.
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.
We describe an 11OHD patient presenting with precocious pseudopuberty and hypokalemia hypertension who harbored a chimeric CYP11B2/CYP11B1 with a novel breakage point located at g.9559-9742 of CYP11B2.
Aldosterone synthase is the key rate-limiting enzyme in adrenal aldosterone production, and induction of its gene (<i>CYP11B2</i>) results in the progression of hypertension.
In light of this, we propose that the differential response of variant CYP11B2, CYP11B1 and CYP17A1 genes to ACTH is an important determinant of blood pressure, tending to predispose individuals with an unfavourable genotype to hypertension.
Aldosterone synthase (CYP11B2) is the key enzyme for aldosterone biosynthesis and its inhibition is a promising approach for the treatment of congestive heart failure, cardiac fibrosis, and certain forms of hypertension.
The present study revealed a strong synergistic effect of CYP11B2C-344T and IC polymorphisms causing susceptibility to EHT and haplotype H1 (-344T-Conv-Lys173) as the risk-conferring factor for hypertension predisposition.
Various investigators, using genomic DNA analyses, have linked -344T polymorphism in the human CYP11B2 (hCYP11B2) gene to human hypertension. hCYP11B2 gene promoter has 3 single-nucleotide polymorphisms in linkage disequilibrium: T/A at -663, T/C at -470, and C/T at -344.
In 131 (65 female) treated hypertensives (average blood pressure 144/82 mmHg and duration of hypertension 11.7 years), we measured peripheral and central arterial pressures, peripheral (AIx(P)) and central (AIx(C1), AIx(C2)) augmentation indices, pulse-wave velocity (PWV) and daily urinary sodium excretion, and conducted genetic studies of ACE D/I and CYP11B2C-344T polymorphisms.
Atrial natriuretic peptide (ANP) and Aldosterone synthase (CYP11B2) are the important RAAS mediators, play a major role in hypertension through regulation of cardiorenal homeostasis and water-electrolytes balance, respectively.
Our study suggested that the -344T/C polymorphism in the CYP11B2 gene was significantly associated with hypertension in the Chinese population, especially in the Han Chinese.
To investigate the -344C/T and intron 2 conversion polymorphisms of aldosterone synthase gene (CYP11B2) for an association with stroke and hypertension in the North Chinese Han population.
Of 41 SNPs genotyped, rs3789678 and rs2493132 within AGT, rs4305 within ACE, rs275645 within AGTR1, rs3802230 and rs10086846 within CYP11B2 were shown to associate with hypertension.
Functional analysis of heterozygous human adrenal tissue demonstrated decreased CYP11B2 expression and increased CYP11B1 expression for those alleles associating with reduced risk of hypertension.
The epistasis between CYP11B2 and NOS3 and its correlation with varied clinical and biochemical parameters signify its possible contribution in the complex etiology of hypertension.
The 344 C/T polymorphism of the CYP11B2 gene predicts resolution of hypertension in patients undergoing adrnelactomy for aldosterone-producing adenoma.
In our study panels, the most significant association was found for CYP11B2rs1799998 with all three BP traits: P=1.5 × 10(-5) for SBP, P=1.8 × 10(-5) for DBP and P=2.3 × 10(-5) for hypertension.