engleski

Frequency of Factor II G20210A, Factor V Leiden, MTHFR C677T and PAI-1 5G/4G Polymorphism in Patients with Venous Thromboembolism: Croatian Case Control Study

Introduction: Venous thromboembolic disease is one of the leading causes of morbidity and mortality in the developed world. Identification of hereditary factors of thrombophilia is contributing to a better understanding of the etiology and prevention of the disease. The aim of this study was to assess the prevalence of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-1 5G/4G polymorphisms in healthy Croatian subjects and in patients with thromboembolism. Materials and methods: This prospective study included 106 healthy subjects and 100 thromboembolic patients who were consecutively admitted to the Intensive Care Unit, University Hospital "Sestre milosrdnice". Results: Heterozygotes for Factor V Leiden polymorphism were more frequent in the group of patients with the thromboembolic disease (16%) than in the control healthy subjects (2.9%), with OR 6.413 (1.807 - 22.758 ; P = 0.004). Allele and genotype frequencies of other studied polymorphisms did not differ between cases and controls. Conclusion: This study confirmed the association of factor V Leiden polymorphism with the development of the thromboembolic disease in Croatian population.

Thrombophilia; coagulation disorders; polymorphism; FV Leiden; PAI-1; MTHFR

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