engleski

The association of factor V Leiden, prothrombin G20210A, MTHFR C677T and PAI-1 5G/4G polymorphisms with deep vein thrombosis and pulmonary embolism in Eastern Croatia

Deep vein thrombosis (DVT) and pulmonary embolism (PE) as the most common forms of venous thrombosis occur as a result of the simultaneous influence of acquired and inherited risk factors. The aim of this study was to examine the prevalence of four genetic risk factors in patients with DVT and patients with PE in Eastern Croatia. Factor V Leiden and prothrombin G20210A mutation as the most common genetic prothrombotic defects, MTHFR C677T and PAI-1 5G/4G polymorphisms that contribute to the risk of venous thrombosis in combination with other factors were analyzed using the real-time PCR method and melting curve analysis. This retrospective study included 120 DVT patients and 45 PE patients genotyped between 2005 and 2014 at the Department of Molecular Diagnostics and Tissue Typing, Osijek University Hospital, Croatia. Allele and genotype frequencies were analyzed by using Fisher's exact test and compared to previously genotyped healthy Croatian controls (n=106). Factor V Leiden polymorphism was significantly associated with DVT (p=4x10-6, OR=10.61, 95% CI 3.10-55.77) and PE (p=2.3x10-4, OR=10.52, 95% CI 2.46-61.86) while prothrombin G20210A polymorphism was significantly associated with DVT (p=0.029, OR=2.89, 95% CI 1.03-9.33). Allele and genotype frequencies of MTHFR C677T and PAI-1 5G/4G polymorphisms did not differ between cases and controls. Our results confirm previously reported association of factor V Leiden with venous thrombosis in Croatian population. Additionally, the association between prothrombin G20210A polymorphism and DVT in Eastern Croatian population was observed too. However, in order to strengthen the statistical power of test larger sample size is required for both analyzed groups, DVT and PE as well.

factor V; prothrombin; MTHFR; PAI-1; deep vein thrombosis; pulmonary embolism; Eastern Croatia

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