Pestana Carolina I, Torres Argimiro, Blanco Susana, Rojas María J, Méndez Carlos, López José L, de Bosch Norma B, Porco Antonietta
Laboratorio de Genética Molecular Humana B, Departamento de Biología Celular, Universidad Simón Bolívar, Caracas, Venezuela.
Genet Test Mol Biomarkers. 2009 Aug;13(4):537-42. doi: 10.1089/gtmb.2008.0100.
The most common genetic defect associated with deep vein thrombosis (DVT) is a mutation in the Factor V gene (G1691A), known as Factor V Leiden (FVL). We investigated the genotypes for FVL in 571 individuals in Venezuela: 208 patients with DVT, 175 patients with acute myocardial infarction, 54 patients with stroke, and 134 control subjects. Our results showed in the population analyzed here that the FVL was associated with a fourfold increase in the risk for DVT (odds ratio, 4.24; 95% confidence interval, 1.35-14.79); particularly, women carriers showed a 6.5-fold increase in the risk for DVT. No relation was observed between the presence of FVL and the risk for acute myocardial infarction or stroke. In conclusion, a clear association between the FVL mutation and DVT was observed in the population analyzed in Venezuela. These results are in agreement with those found in other populations with different ethnic backgrounds.
与深静脉血栓形成（DVT）相关的最常见遗传缺陷是凝血因子V基因（G1691A）的突变，即凝血因子V莱顿突变（FVL）。我们对委内瑞拉的571名个体进行了FVL基因型调查：208例DVT患者、175例急性心肌梗死患者、54例中风患者和134名对照受试者。我们的结果显示，在此分析的人群中，FVL与DVT风险增加四倍相关（优势比，4.24；95%置信区间，1.35 - 14.79）；特别是，女性携带者的DVT风险增加了6.5倍。未观察到FVL的存在与急性心肌梗死或中风风险之间的关系。总之，在委内瑞拉分析的人群中观察到FVL突变与DVT之间存在明确关联。这些结果与在其他不同种族背景人群中发现的结果一致。
