AGT and AT1R gene polymorphism in hypertensive heart disease

• Published in: International journal of clinical practice (Esher) Vol. 56; no. 8; p. 574
• Main Authors: Mettimano, M, Romano-Spica, V, Ianni, A, Specchia, Ml, Migneco, A, Savi, L
• Format: Journal Article
• Language: English
• Published: England 01-10-2002
• Subjects: Adult; Aged; Alleles; Angiotensinogen - genetics; Female; Heart Function Tests - methods; Humans; Hypertension - complications; Hypertension - genetics; Hypertrophy, Left Ventricular - complications; Hypertrophy, Left Ventricular - genetics; Male; Middle Aged; Mutation - genetics; Polymorphism, Genetic; Receptor, Angiotensin, Type 1; Receptors, Angiotensin - genetics; Renin-Angiotensin System - genetics
• ISSN: 1368-5031
• DOI: 10.1111/j.1742-1241.2002.tb11326.x

Left ventricular hypertrophy in patients with hypertension is a main clinical prognostic entity The aim of this study was to evaluate the association between mutations at genes of the renin-angiotensin system (RAS) and the development of left ventricular hypertrophy. Genetic polymorphism in angiotensinogen (AGT) and angiotensin Il-type 1 receptor (AT1R) genes was examined in a group of well-selected essential hypertensive caucasians with left ventricular involvement (n = 40) and a group of healthy unrelated caucasians (n = 150). Cardiac morphology and function were assessed by M-mode echocardiography. Molecular variants were analysed by amplified fragment length polymorphism. We observed a statistically significant difference both for AGT and AT1R genotype distribution in patients with left ventricular hypertrophy compared with controls (p<0.05). A 0.49 and 0.225 frequency was detected among cases for T and C mutant alleles at AGT and AT1R genes. Mutations in RAS genes are involved in the pathophysiology of target-organ damage in essential hypertension. Evaluation of molecular factors conferring a risk of developing heart involvement may lead to better identification of patient subgroups and more effective control of the clinical course.