Vr. Arruda et al., PREVALENCE OF THE PROTHROMBIN GENE VARIANT (NT20210A) IN VENOUS THROMBOSIS AND ARTERIAL-DISEASE, Thrombosis and haemostasis, 78(6), 1997, pp. 1430-1433
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.