FREQUENCY OF GENETIC VARIANTS ASSOCIATED WITH CORONARY ARTERY DISEASE AND VENOUS THROMBOEMBOLISM IN YOUNG PATIENTS IN REPUBLIC OF N. MACEDONIA
Keywords:coronary artery disease, venous thromboembolism, deep vein thrombosis, pulmonary embolism, genetic mutation
Introduction: Coronary artery disease - CAD and venous thromboembolism - VTE are two major manifestations of cardiovascular diseases. Genetic mutations responsible for the occurrence of CAD and VTE in young population are subject of numerous researches and studies.
Aim: To determine the allelic and genotypic frequencies of the analyzed gene variants and to examine whether there is overlap of the most common genetic mutations between the two groups.
Material and methods: This clinical study analyzed the demographic, clinical, and genetic data of a group of 36 patients up to 50 years of age with CAD and a second group of 32 patients up to 50 years of age with VTE. The selection of subjects was according to previously established inclusion and exclusion criteria. Genetic testing was performed on each patient to determine the presence of certain genetic mutations.
Results: The occurrence of CAD and VTE in young population is significantly more common in men. In terms of risk factors, overweight and obesity were found to be the most common in both groups, while hypertension and smoking being more prevalent in the CAD group. Heterozygous mutations for: MTHFR C677T, eNOS 786 T>C, e NOS 894T and B-fibrinogen were most common in group 1, while in group 2 heterozygous mutations for: eNOS -786 T>C, MTHFR C677T, MTHFR a1298C and B-fibrinogen.
Conclusion: Genetic polymorphisms in MTHFR, B-fibrinogen and eNOS genes should be tested in patients with CAD and VTE under 50 years of age as additional risk factors.
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