Original scientific paper

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

Zrinka Alfirevic ; Intensive Care Unit, University Department of Internal Medicine, Sestre Milosrdnice University Hospital, Zagreb, Croatia
Ana-Maria Simundic ; University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia
Nora Nikolac ; University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia
Nikola Sobocan ; Department of Internal Medicine, County Hospital Cakovec, Cakovec, Croatia
Igor Alfirevic
Mario Stefanovic ; University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia
Zeljko Vucicevic ; Intensive Care Unit, University Department of Internal Medicine, Sestre Milosrdnice University Hospital, Zagreb, Croatia
Elizabeta Topic ; University Department of Chemistry, Sestre Milosrdnice University Hospital, Zagreb, Croatia

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 IIG20210A, factor V Leiden, MTHFR (methylenetetrahydrofolate reductase) C677T and PAI-1 (plasminogen activator inhibitor-1) 5G/4G polymorphisms in healthy Croatian subjects and patients with thromboembolism.
Materials and methods: This prospective study included 100 thromboembolic patients consecutively admitted to the Intensive Care Unit, Sestre Milosrdnice University Hospital and 106 healthy subjects. Genotyping of factor IIG20210A, 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 patients with the thromboembolic disease (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.

Keywords

thrombophilia; coagulation disorders; polymorphism; FV Leiden; factor II; plasminogen activator inhibitor-1; methylenetetrahydrofolate reductase

Hrčak ID:

53370

URI

https://hrcak.srce.hr/53370

Publication date:

4.6.2010.

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