Chronic heart failure associated genetic polymorphisms

Abstract

The genetic associations between single-nucleotide polymorphisms of genes and chronic heart failure in phenotypically similar groups of patients were examined. The known information about single-nucleotide polymorphisms associated with the main pathogenetic links of chronic heart failure is systematized. Using electronic databases (PubMed, Web of Science, eLibrary), a search and synthesis of scientific works was conducted, followed by the formation of groups of genes homogeneous in their functionality (i.e., genes of the metabolic cascade, coagulation cascade, and neuroendocrine cascade). From 50 literary sources analyzed, 15 of the most specific genes were identified (ApoA1, ApoE, ApoC3, GNB3, FTO, PON-1, ET(A), EDNRA, F13, ITGB3, PAI-1, VEGF, ACE, AGT, AGTR1), contributing in metabolic processes, the hemostatic system, endothelial function, and regulation of the renin–angiotensin–aldosterone system and associated with the development of chronic heart failure. The most significant contribution of these genes in the development of regulatory and structural disorders characteristic of the pathogenetic phenotype of chronic heart failure has been proven. The results are ambiguous. Thus, in individuals who have a polymorphic gene variant in their genotype associated with the risk of developing a disease, the possibility of its manifestation is considerably higher; however, this does not confirm the development of the disease. Moreover, a correlation was noted between ejection fraction in patients with chronic heart failure and gene polymorphisms associated with renin–angiotensin–aldosterone system dysfunction and metabolic cascade. Chronic heart failure is a polygenic disease. Hence, this allows for further research into groups of coordinately functioning genes that are part of genetic regulatory networks, enabling a more complete understanding of the etiology and pathophysiological mechanisms of this nosology with the aim of subsequent early identification of individuals belonging to the risk group and the creation of a set of measures for individual prevention diseases. We believe that the development of chronic heart failure with low ejection fraction is primarily responsible for gene polymorphisms associated with disorders of the renin–angiotensin–aldosterone system and for the development of chronic heart failure with preserved ejection fraction — gene polymorphisms associated with metabolic cascade disorders.