Hypertension And Artery Stiffness In Relation To Four Candidate Genes In The Han Nationality Population

BackgroundEssential hypertension is a complex disorder influenced by multiple genetic and environmental factors. Genetic factors play a key role in the pathogenesis of hypertension. The genes encoding RAS, influencing renal sodium handling such as adducing and secretion of aldosterone are considered as the important candidate genes.Angiotensin converting enzyme (ACE) is a key enzyme of RAS and converting angiotensin I into active angiotensin Ⅱ. It is reported that I/D polymorphism in intron 16 of the ACE gene accounts for half of the variance of serum ACE levels and is associate with essential hypertension and artery stiffness.The 825T allele of the G-protein β 3- subunit gene (GNB3) is associated with increased intracellular signaling and adipogenesis in experimental studies. Mutation of this gene entails stimulation of the ubiquitously expressed Na+/H+ exchanger. At the kidney level, this may increase Na+ re-absorption and cause chronic volume expansion. Prevention of intracellular acidosis may also lead to proliferation of vascular smooth cell, vascular remodeling and increased peripheral arterial resistance. In addition, 825T polymorphism may cause high blood pressure via a metabolic pathway characterized by obesity and insulin resistance as well as via increased peripheral resistance secondary to the higher haematocrit.Significant correlation of body sodium and potassium with blood pressure (BP) may suggest a role for aldosterone in essential hypertension. Aldosterone synthase (CYP11B2) is a key enzyme in the biosynthesis of aldosterone. Recently, a polymorphism in the 5'-flanking region of the CYP11B2 gene (C-344T) has been reported to be associated with essential hypertension, particularly with low-renin hypertension.The substitution of tryptophan for glycine at amino acid 460 (Gly460Trp...