POLYMORPHISM AND SYNERGISM OF THE HEMOSTASIS SYSTEM GENES IN PATHOGENESIS OF INFECTIVE ENDOCARDITIS

DOI: https://doi.org/10.29296/24999490-2019-04-07

N.V. Maltseva(1), T.A. Laputenko(2), A.Sh. Smirnova(1), S.L. Kan(1) 1-Novokuznetsk State Institute for Further Training of Physicians – Branch Campus of the Federal State Budgetary Educational Institution of Further Professional Education «Russian Medical Academy of Continuous Professional Education» of the Ministry of Healthcare of the Russian Federation, Stroiteley 5, Novokuznetsk 654005, Russian Federation; 2-LLC «Grand Medica», Kuznetskstroyevsky avenue 11, Novokuznetsk, 654007, Russian Federation E-mail: ninamaltseva2015@mail.ru

Introduction. The genetically determined tendency of patients to thrombosis may be one of the etiopathophysiological factors of the infective endocarditis (IE). Aim. А search for variants of genes and their combinations in the hemostatic system, the carriage of which affects the pathogenesis (risks and outcome) of IE. Material and methods. Genotyping of 66 IE patients (20 women and 46 men), including 33 men and 12 women with acute and 13 men and 8 women with subacute course of the disease, and 63 patients (30 women and 33 men) with sepsis on polymorphic loci rs1801133 methylenetetrahydrofolate reductase gene MTHFR (MTHFRAla222Val(C677T)), rs1800790 of the beta-fibrinogen gene FGB (FGB-455G-A), rs5918 of the beta-3 integrin, thrombocyte fibrinogen receptor gene ITGB3 (ITGB3Leu33Pro(T1565C)) was carried out by the allele-specific polymerase chain reaction method. Results. Monogenic and combined carriage of MTHFR222Val(677T), FGB-455-A, ITGB3Leu33(T1565) alleles is associated with an increased risk of the development and death in IE cases. Conclusion. Multiplex analysis of variants of the polymorphic loci of the hemostatic system genes should be included in the algorithm of genotyping in the diagnosis and treatment of IE patients.
Keywords: 
infective endocarditis, sepsis, gene, single-nucleotide polymorphism, hemostasis, pathogenesis

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