PREVALENCE OF THE PROTHROMBIN GENE VARIANT (NT20210A) IN VENOUS THROMBOSIS AND ARTERIAL-DISEASE

The prothrombin gene variant resulting form a G-->A transition at posi tion 20210 has been described as a common genetic risk factor for veno us thrombosis. However, the risk for developing arterial disease is un known. In this investigation, we studied 116 patients with venous thro mbosis and 71 with arterial disease, all of whom were compared with 29 5 controls. Additionally, we also investigated the distribution of the prothrombin alleles among African descendents and Amazonian Indians f rom Brazil. The prevalence of 0.7% for 20210A allele in the control gr oup increased to 4.3% (P = 0.021) among patients with venous thrombosi s. There was also a high prevalence of the mutated allele in a selecte d arterial disease group (5.7%) without hyperlipoproteinemia, hyperten sion, and diabetes mellitus when compared to the controls (P = 0.013). Heterozygotes for the allele 20210A were common among individuals of African descent (2%) and rare among Indians. These data support the hy pothesis that the prothrombin variant is a risk factor for venous thro mbosis and suggest that it may also be a risk factor for arterial dise ase.