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The Role of Gene Polymorphisms of the Renin-Angiotensin System in the Formation of Cardiovascular Pathology. P. 30–39

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Section: Physiology

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612.14:575.174.015.3

Authors

Sergey N. Levitskiy*, Ol’ga A. Pervukhina*, Natal’ya A. Bebyakova*
*Northern State Medical University (Arkhangelsk, Russian Federation)

Abstract

This paper summarizes Russian and foreign literature on the role of hereditary factors in the development of cardiovascular disease. In addition, it studies the influence of candidate genes determining the synthesis of angiotensinogen (AGT) and angiotensin II receptor type 1 (AGTR1). The most widely studied are the variants connected with single-nucleotide substitutions Т704С (М235Т, М268Т) and С521Т (Т174М, Т207М) in the AGT gene as well as Т573С and А1166С polymorphisms of the AGTR1 gene. Clinical practice has proved these polymorphisms to be the most important ones. The authors of this paper have analysed the results of many years’ research conducted both in Russia and abroad identifying associations between gene polymorphisms of the renin-angiotensin system (RAS) and changes in the function of the cardiovascular system, in particular, the development of hypertension, risk of vascular complications, cardiomyopathy, myocardial infarction, ischemic stroke, left ventricular hypertrophy, etc. The results of the examined investigations fail to answer the question of whether the AGT and AGTR1 polymorphisms under study are functionally significant. It has been established that abnormal alleles of these polymorphisms occur with different frequencies in different populations and are not always associated with the risk of developing cardiovascular diseases. The inconsistency of the findings can be explained by the complexity of RAS and multiplicity of physiological effects produced by it on the cardiovascular and other body systems. Further genetic associative research will promote identification of genetic markers of cardiovascular diseases.

Keywords

genetic markers of cardiovascular disease, AGT and AGTR1 gene polymorphisms, renin-angiotensin system

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