Abstract

GONZALEZ, Victoria Carolina; PEROVIC, Nilda Raquel  and  DEFAGO, María Daniela. C677T polymorphism of 5,10-methylenetetrahydrofolate reductase (MTHFR) and cardiovascular disease. Diaeta [online]. 2016, vol.34, n.157, pp.40-47. ISSN 1852-7337.

Introduction: Evidence about the relationship between high levels of homocysteine (Hcy) in plasma and risk of cardiovascular disease (CVD) exists. Polymorphism (single nucleotide polymorphism, SNP) C677T of the gene encoding 5,10-methylenetetrahydrofolate reductase (MTHFR) is considered a genetic determinant for Hcy concentration. Vitamins as folic acid, B12, B2 and B6 participate in the metabolism of this amino acid. Objective: To explore literature evidence upon C677T SNP, the risk of cardiovascular disease and nutrients that can prevent it. Materials and Method: A search of publications listed in the electronic databases MEDLINE, EMBASE and Google Scholar, between 1994 and 2015, was performed. Articles containing keywords or a combination of them were included. Results: 15 articles were included. An increased CVD risk in carriers of C677T SNP was noticed. Folic acid is an important determinant of Hcy concentration in plasma. TT homozygous carriers also showed a decreased level of Hcy in response to supplementation with B12, B2 and B6 vitamins. Conclusion: The analyzed studies showed the relationship between a lower activity of MTHFR enzyme, increased Hcy and CVD risk. Plasma Hcy values were influenced by deficiencies of vitamins B, an important determinant in TT genotype.

Keywords : MTHFR C677T polymorphism; Homocysteine; Cardiovascular disease; Nutrigenomics; Vitamins.

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