Factor V Leiden and prothrombin G20210A among Chilean patients with venous and arterial thrombosis

Factor V Leiden and G20210A mutation of prothrombin gene are two important genetic polymorphisms associated with an increased risk for thrombosis. To establish the prevalence of factor V Leiden and prothrombin G20210A mutation in the Chilean population and their association to venous and arterial th...

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Bibliographic Details
Published in:Revista medíca de Chile 2005-12, Vol.133 (12), p.1425-1433
Main Authors: Palomo, Iván, Pereira, Jaime, Alarcón, Marcelo, Pinochet, Carmen, Vélez, María T, Hidalgo, Patricia, Skagerberg, Karin, Poblete, Fernando
Format: Article
Language:Spanish
Subjects:
Case-Control Studies
Chile - epidemiology
Factor V - genetics
Female
Genetic Predisposition to Disease
Genotype
Humans
Male
Middle Aged
Mutation
Odds Ratio
Polymerase Chain Reaction
Polymorphism, Genetic
Prothrombin - genetics
Risk Factors
Thrombosis - epidemiology
Thrombosis - genetics
Venous Thrombosis - genetics
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Summary:Factor V Leiden and G20210A mutation of prothrombin gene are two important genetic polymorphisms associated with an increased risk for thrombosis. To establish the prevalence of factor V Leiden and prothrombin G20210A mutation in the Chilean population and their association to venous and arterial thromboembolism. A case-control study was conducted where 149 patients with thrombosis (87 with arterial and 62 with venous thrombosis) confirmed by CAT-scan, electrocardiogram and cardiac enzymes or Doppler depending on the case, and 160 healthy blood donors were genetically analyzed for the presence of both polymorphisms. Factor V Leiden mutation was found in 5.4% of patients and in 1.3% of healthy controls (p=0.04). Heterozygosity for G20210A prothrombin mutation was found in 5.4% of patients and in 2.5% of the control group (p=NS). When arterial and venous thrombosis were considered as separate entities, 4.6% of patients with arterial thrombosis and 6.5% with venous thrombosis presented factor V Leiden (p=NS). Likewise, 8.1% of patients with venous thrombosis and 3.5% of patients with arterial thrombosis had G20210A prothrombin mutation (p=NS). In non selected consecutive Chilean patients with arterial and venous thrombosis the frequency of factor V Leiden and prothrombin G20210A is less than we could expect from their prevalence in the general population.
ISSN:0034-9887