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https://doi.org/10.14300/mnnc.2020.15010

Genetic aspects of hemostasis disorders in patients with minor heart anomalies

[Original research]
Alexandr Yagoda; Lidia Arturovna Аayrapetyan;

In 100 young people (Slavs) with connective tissue dysplasia (СTD) – inhabitants of the Stavropol Territory (28 men, average age 23.04±3.34 years), small heart abnormalities – atrial septal aneurysms (ASA), mitral valve prolapse (MVP), abnormally located chords (ALC) and their combinations were revealed by echocardiography (Vivid-7, Israel). The polymorphisms of 12 genes were studied: hemostasis system genes – blood coagulation factors (fibrinogen, FGB:-455G/A; prothrombin, FII:20210G/A; proaccelerin, FV:1691G/A; proconvertin, FVII:10976G/A; factor XIIIA1:G/T), gene of the fibrinolysis system (type 1 plasminogen activator inhibitor, PAI-1:-675 5G/4G), platelet receptor glycoprotein genes (platelet receptor for collagen, ITGA2:807C/T; platelet fibrinogen receptor-3: 1565B, ITG65 C), as well as regulatory genes for homocysteine metabolism (methylenetetrahydrofolate reductase enzymes – MTNFR:677C/T and MTNFR:1298A/C; B12-dependent methio yn-synthase – MTR:2756A/G; methionine synthase reductase – MTRR:66A/G). The association of ASA with the A allele and the A/A and G/A genotypes of the FV:1691G/A gene (pro-accelerin) and the T/T genotype of the FXIIIA1:G/T gene (fibrin-stabilizing factor) has been proven. In the MVP group and in the presence of isolated ALC, a high frequency of occurrence of heterozygous polymorphisms of the ITGA2-α2: 807С/т and ITGВ-3β: 1565т/С genes, that control platelet receptors for collagen and fibrinogen, and a decrease in the total frequency of «neutral» alleles were determined. With an increase in the severity of mitral regurgitation, an increase in the frequency of polymorphisms of the FII gene: 20210G/A (prothrombin) and a decrease in the polymorphisms of platelet receptor genes were found. In the ALC group, the incidence of pathological homozygous (4G/4G) plasminogen activator inhibitor gene type 1 (PAI-1) exceeded that in patients without SHA. In MAS, the occurrence of polymorphisms of homocysteine metabolism genes was less frequent than in patients without MAS.

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Keywords: heart anomalies, thrombophilia, genes