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 prothrombin gene (a G to A transition at position 20210) was discovered, and an association with venous thrombosis and cardiovascular disease was 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 chromosomes) who belong to four different ethnic groups: Whites, African and Brazilian Blacks, Asians and Amerindians. PCR amplification followed by HindIII digestion was employed. The polymorphism was found in heterozygosity in 2 out of 120 Whites or a prevalence of 1.6% (allele frequency 0.8%), similar to that observed for other Caucasian populations. The A allele was absent among the other ethnic groups analyzed. Our data indicate that in non-Caucasians the prevalence of the 20210 G-->A mutation in the prothrombin gene, if any, must be extremely low. The absence of this novel genetic risk factor for venous and arterial thrombotic disease among non-Caucasians may contribute to explaining geographical and ethnic differences in the risk of vascular disease.