Allelic polymorphism of genes associated with hemostatic system activity and the risk of venous thromboembolism in young patients

Aim: To define the main genetic risk factors of venous thromboembolism (VTE) in young adults and reveal gender-related distinctions in their frequency in VTE patients. Methods and results: Two hundred and fifty patients with VTE - 119 men and 131 women, mean age 37.4 years (from 10 up to 45 years old) were studied. The control group consisted of 191 age- and sex-matched healthy persons without thrombotic history. Patients and controls were genotyped for nine DNA polymorphisms: b-subunit of the factor I (FI) - 455 G/A, FI a-subunit Thr312Ala, FII 20210 G/A, FV 1691 G/A, FXII 46 C/T, FXIII A-subunit Val34Leu, PAI-1 - 675 4G/5G, TPA 311 bp I/D, EPCR Ser219Gly. Statistically significant associations with VTE were identified for FII 20210 G/A genotype (OR = 6,3; 95%CI: 1,9-21,4; р = 0,0005), FV Leiden mutation (OR = 3,8; 95%CI: 1,7-8,3; р = 0,0004), FI 312Ala/Ala (OR = 2,4; 95%CI: 1,2-5,0; р = 0,02) and EPCR 219Gly variant (OR = 1,6; 95%CI: 1,0-2,6; р = 0,04). Sex-dependent differences were found for FXIII and EPCR genotype distributions. Homozygosity for the FXIII 34Leu considerably increased the risk of VTE in women (OR = 2,5; 95%CI: 1,2-6,1 р = 0,023), whereas in men the risk of VTE was associated with heterozygous EPCR 219Ser/Gly variant (OR = 1,6; 95% CI: 0,9-3,5, р = 0,035).

тромбоз глубоких вен, тромбоэмболия легочной артерии, венозный тромбоэмболизм, наследственная тромбофилия, ген, фактор риска, deep vein thrombosis, pulmonary embolism, venous thromboembolism, inherited thrombophilia, gene, risk factor

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