Prevalence of MTHFR gene polymorphisms among Mediteanean populations: a possible genetic selection from malaria?

The methylenetetrahydrofolate reductase (MTHFR) is a regulating enzyme in the remethylation pathway of the homocysteine metabolism. Elevated levels of homocysteine during acute Plasmodium falciparum infection suggests an imbalance in the folate cycle, which cod be a selection for the C677T MTHFR allele, driven by P. falciparum. The study of the genetic distribution of the MTHFR polymorphisms in different geographic areas at ex high past malaria prevalence could light up aboua possible selection for the MTHFR polymorphisms driven by malaria. Therefore, we investigated the distributions of the allele frequencies of both the C677T and A1298C mutations in different Mediterranean healthy populations: Sardinia and Sicily (Italy), Corsica and South France (France), Andalusia, Basques and Central Spain (Spain), Arabs from Middle-Western and Berber of Kenifra (North Africa).