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Official Journal of the , the International Union of Phlebology and the
Indexed/Abstracted in: BIOSIS Previews, Current Contents/Clinical Medicine, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,899
Online ISSN 1827-1839
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
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.