PREVALENCE OF THE G20210A POLYMORPHISM IN THE 3'-UNTRANSLATED REGION OF THE PROTHROMBIN GENE IN DIFFERENT HUMAN-POPULATIONS

Recently a novel polymorphism in the 3'-untranslated region of the pro thrombin gene (a G to A transition at position 20210) was discovered, and an association with venous thrombosis and cardiovascular disease w as found. The prevalence of the polymorphic allele in different human populations is unknown. We investigated the prevalence of the A 20210 allele of the prothrombin gene in 420 unrelated individuals (840 chrom osomes) who belong to four different ethnic groups: Whites, African an d Brazilian Blacks, Asians and Amerindians. PCR amplification followed by HindIII digestion was employed. The polymorphism was found in hete rozygosity in 2 out of 120 Whites or a prevalence of 1.6% (allele freq uency 0.8%), similar to that observed for other Caucasian populations. The A allele was absent among the other ethnic groups analyzed. Our d ata indicate that in non-Caucasians the prevalence of the 20210 G-->A mutation in the prothrombin gene, if any, must be extremely low. The a bsence of this novel genetic risk factor for venous and arterial throm botic disease among non-Caucasians may contribute to explaining geogra phical and ethnic differences in the risk of vascular disease.