STUDY UF POLYMORPHISMS OF GENES ASSOCIATED WITH THE DEVELOPMENT OF THROMBOPHILIA IN INDIVIDUALS AT RISK OF SUDDEN CARDIAC DEATH

Mortality from cardiovascular diseases in the Russian Federation is one of the highest in the world and is 575 per 100,000 inhabitants for January-November 2019. The main causes of death from cardiovascular disease are the progression of chronic cardiovascular failure and sudden cardiac death. The risk of sudden cardiac death is determined based on history, physical examination, laboratory and instrumental studies. Those at risk should be given preventive measures to prevent and reduce the likelihood of sudden cardiac death. One of the causes of sudden cardiac death is coronary heart disease, which can occur in people with thrombophilia. In Russia, the number of registered venous thrombosis is 145-200 cases annually (per 100,000 population), with more than 70% of cases being subclinical, posing a risk of fatal thromboembolism and cardiovascular diseases. The goal of our work was to study the polymorphism of genes, which are single-nucleotide replacements of the bases associated with thrombophilia, and their effect on the development of sudden cardiac death. The peculiarity of many variant (polymorphic) genes is that over time they may not appear. Pathological symptoms occur only under additional conditions (surgery, obesity, pregnancy, use of hormonal contraceptives, increased levels of homocysteine in the blood, long period of immobility, etc.). The study involved 80 people who were tested for blood using DNA technology kits. Modicified risk factors for cardiovascular diseases have been identified.

Sudden cardiac death, thrombophilia, single-nucleotide polymorphism (SNP), thrombosis, hemostasis, mutations