Genetic polymorphisms coding hemostasis protein synthesis and venous thromboembolic complications in Moscow population

2011 
Aim. To estimate incidence of carriage of genetic polymorphisms coding hemostasis protein synthesis in patients with venous thromboembolic complications (VTEC) and healthy subjects in Moscow population; to detect VTEC genetic prognostic factors among the polymorphisms. Material and methods. A total of 111 patients with the history of deep vein thrombosis and/or pulmonary artery thromboembolism were examined. The control groups consisted of 197 healthy volunteers. Eleven polymorphisms in 7 genes coding hemostasis protein synthesis were investigated: V Leiden G1691A factor, G20210A prothrombin, C677T methylentetrahydrofolatreductase, A1298C methylentetrahydrofolatreductase, type 1 plasminogen activator inhibitor, 4G/5G promoter region, XIII V34L coagulation factor, IIIa L33P thrombocytic glycoprotein, C282Y hemochromatosis, G854A beta-fibrinogen, G455A beta-fibrinogen, C249T beta-fibrinogen. Results. Polymorphisms of the genes coding hemostasis protein synthesis were detected in all the patients and controls. The carriage occurred with the same frequency, respectively. By one-factor analysis, VTEC was associated with carriage of three heterozygous genotypes: V Leiden factor (p < 0.001), prothrombin (p = 0.052) and hemochromatosis (p = 0.048). Multifactor regression analysis has shown that only carriage of heterozygous polymorphism of V Leiden factor gene is a genetic prognostic factor of VTEC in Moscow population (p = 0.001, RR = 7.00, 95% CI 2.2-21.7). Conclusion. Genetic polymorphisms coding hemostasis protein synthesis are not a rare finding in Moscow population and occur in all the examinees (both patients and healthy subjects) in different combinations. Only carriage of V Leiden factor heterozygous genotype is a genetic prognostic factor of VTEC in Moscow population and is associated with a 7-fold increase of VTEC risk.
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