Study Of The Ethnic Origin Of The Prothrombin Gene (F2) In The Admixed Venezuelan Population

The prothrombin (coagulation factor II), codified by the F2 gene, is the precursor of thrombin that cleaves fibrinogen, leading to a blood clot formation. The F2 mutation 20210 G>A (c.*97G>A) is associated with prothrombin thrombophilia, and carriers have a higher than average risk for developing deep venous thrombosis. The 20210A variant is almost absent in populations other than Caucasoid European, and was not found in a Venezuelan population sample of 160 healthy individuals. To assess the possible ethnic origin of the F2 gene in our admixed population, four intragenic SNPs (rs2070850, rs2070852, rs2282686 and rs1799963), with different allelic frequencies according to ethnic groups, were studied and compared with the main 1000 Genomes Project super-populations. The results showed intermediate allelic frequencies in all the SNPs, without differentiating a single specific population, confirming the joint ancestral genetic contribution of the parental populations in Latin America: Spaniards, Africans and Amerindians. Our allelic frequency distribution of the F2 polymorphisms was closer to the AMR (American admixed) subset population of the 1000 Genomes Project. According to this ethnic composition, there is a low probability of detecting carriers of the risk allele 20201A in the Venezuelan healthy general population.