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INTERNATIONAL ANGIOLOGY

Rivista di Angiologia


Official Journal of the International Union of Angiology, the International Union of Phlebology and the Central European Vascular Forum
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International Angiology 2003 March;22(1):55-7

lingua: Inglese

Prevalence of the G20210A prothrombin gene mutation in Northwestern Greece and association with venous thromboembolism

Zalavras Ch. G. 1, Giotopoulou S. 2, Dokou E. 2, Mitsis M. 3, Ioannou H. V. 3, Tsaousi C. 2, Tzolou A. 4, Kolaitis N. 2, Vartholomatos G. 2

1 Depart­ment of Ortho­paed­ic Sur­gery, Uni­ver­sity Hos­pi­tal of Ioan­ni­na, Ioan­nina, ­Greece
2 Hae­ma­tol­o­gy Labor­a­to­ry - Unit of Molec­u­lar Biol­o­gy, Uni­ver­sity Hos­pi­tal of Ioan­ni­na, Ioan­nina, ­Greece
3 Depart­ment of Sur­gery, Uni­ver­sity Hos­pi­tal of Ioan­ni­na, Ioan­ni­na, ­Greece
4 Blood Bank, Uni­ver­sity Hos­pi­tal of Ioan­ni­na, Ioan­ni­na, ­Greece


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Aim. The G20210A muta­tion of the pro­throm­bin gene is a genet­ic risk fac­tor for ­venous throm­boem­bo­lism (VTE). Var­i­abil­ity ­exists in the muta­tion prev­a­lence in both nor­mal indi­vid­u­als and VTE ­patients. The aim of this study was to deter­mine the muta­tion prev­a­lence in North­west­ern ­Greece and eval­u­ate its asso­ci­a­tion with VTE.
Meth­ods. Pres­ence of the G20210A muta­tion was inves­ti­gat­ed using DNA anal­y­sis in 176 con­sec­u­tive ­patients with a his­to­ry of ­venous throm­bo­sis or pul­mo­nary embo­lism and in 300 ­healthy con­trols, all Cau­ca­sian res­i­dents of North­west­ern ­Greece.
­Results. The muta­tion was ­present 12 ­patients (6.8%) and 8 con­trols (2.7%). The odds ratio for pres­ence of the muta­tion ver­sus the nor­mal gen­o­type in VTE was 2.7 (95% CI: 1.1 to 6.7), which was sta­tis­ti­cal­ly sig­nif­i­cant. The prev­a­lence of the G20210A pro­throm­bin gene muta­tion in North­west­ern ­Greece is 2.7% (95% CI: 0.8% to 4.4%) with an ­allele fre­quen­cy of 1.3% (95% CI: 0.4% to 2.3%).
Con­clu­sion. The G20210A muta­tion of the pro­throm­bin gene is asso­ciat­ed with VTE in the Cau­ca­sian res­i­dents of this geo­graph­ic ­region.

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