Factor V Leiden, prothrombin 20210A, methylenetetrahydrofolate reductase 677T, and population genetics

Low prevalence of Factor V Leiden and the prothrombin G20210A mutation in a healthy population from the central-south region of Chile

“…21 The same as FV Leiden Asian population presented low prevalence of G 20210A polymorphism, thus in Thai population a prevalence of 0.5% was found, 23 and in Japanese, Chinese, Korean and Mongolian population, a prevalence closed to 0% was found. 3 Also, a Lebanese community showed a frequency of 3.6% of this polymorphism. 25 The major prevalence of FV Leiden and PT G20210A in the Caucasian population supports the theory that both mutations emerged 21.000 to 34.000 years ago, only in the Caucasian population, after the separation of Mongols and Caucasian.…”

“…22 On the other hand, Asian population presented a lower prevalence of this polymorphism than Thai people with 0.5% 22 and Japanese, Chinese, Korean and Mongolian whose prevalence is closed to 0%. 3 It is interesting to observe that the prevalence of FV Leiden between the healthy population of a region in Turkey is 8.7% of which 1% presents homozygosity 24 and a Lebanese community showed a frequency of 13.8%. 25 As far as the prevalence of PT G20210A mutation, it is observed a clear dependent distribution of the population.…”

“…25 The major prevalence of FV Leiden and PT G20210A in the Caucasian population supports the theory that both mutations emerged 21.000 to 34.000 years ago, only in the Caucasian population, after the separation of Mongols and Caucasian. 6,8 The revision of 26 European and neighboring countries showed that the FV Leiden could have expanded from the region of Anatolia, Turkish peninsula, 3,26 to Europe and to other continents later.…”

“…1,2 Among the last ones, punctual mutations are found in FV gene (G1691A or FV Leiden) and in PT gene (G20210A), which delivers a protein resistant to the activated protein C (APC) and increases PT plasmatic level, respectively, thus constituting the most frequent inherited pre-despondent factors of the thrombosis. 3 The APC resistance of FV was described by Dahlback, Carlsson & Svensson in 1993; 4 and then, Bertina et al, 5 in 1994 described the genetic alteration, which in 90% of the cases occurs due to the G1691A punctual mutation in FV gene. The FV Leiden is found in the long arm of the chromosome 1 (1q21) and the transmission of the gene is autosomal dominant.…”

“…Moreover, it is established that the origin was found 21,000-34,000 years ago in Middle East from where it was spread through Europe, which could explain the dependent frequency of the population, being the Caucasian the one that presents a major prevalence . 3,6 On the other hand, PT G20210A mutation represents the second most frequent prothrombotic polymorphism in humans. Its transmission is also autosomal dominant codified in the short arm of the chromosome 11 (11p11).…”