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International Angiology 2003 March;22(1):55-7

Copyright © 2003 EDIZIONI MINERVA MEDICA

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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