Frequency of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-15G/4G polymorphism in patients with venous thromboembolism: Croatian case-control study

Abstract

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 disease prevention. The aim of this study was to assess the prevalence of factor II G20210A, factor V Leiden, MTHFR (methylenetetrahydrofolate reductase) C677T and PAI-1 (plasminogen activatorinhibitor-1) 5G/4G polymorphisms in healthy Croatian subjects and patients with thromboembolism. Materials and methods: This prospective study Included 100 thromboem bolic patients consecutively admitted to the Intensive Care Unit, Sestre Milosrdnice University Hospital and 106 healthy subjects. Genotyping of factor II G20210A, factor V Leiden, MTHFR C677T and PAI-1 5G/4G polymorphisms was done using melting curve analysis on Light Cycler 1.2 analyzer. Results: Heterozygotes for Factor V Leiden polymorphism were more frequent in the group of pa tients with the throm boembolicdi sea se (16%) than in the control healthy subjects (2.9%), OR (95% CI) = 6.41 (1.81-22.8); 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 thromboembolic disease in Croatian population.