Abstract
Folate and other B vitamins are essential co-factors of one-carbon metabolism, and genetic variants, such as polymorphisms, can alter the metabolism. Furthermore, the adoption of food fortification with folic acid showed a decrease of homocysteine concentration. The aim of this study was to investigate the frequencies of the polymorphisms of enzymes and carrier proteins involved in one-carbon metabolism, and to evaluate homocysteine concentrations in the presence of these genetic variants in a population exposed to mandatory food fortification with folic acid. Using data from a population-based cross-sectional study in São Paulo, Brazil, the study population comprised 750 participants above 12 years of age of both genders. A linear regression model was used to evaluate the homocysteine concentrations according to genetic variants and folate level. The results showed that the minor allelic frequencies were 0.33 for MTHFR (rs1801133), 0.24 for MTHFR (rs1801131), 0.19 for MTR (rs1805087), 0.42 for MTRR (rs1801394), 0.46 for RFC1 (rs1051266), and 0.47 for DHFR (19-bp deletion). The genetic variants of MTHFR 677C>T, MTRR 66A>G and RFC-1 80G>A were different according to race. The homocysteine concentrations increased in the CT and TT compared to CC genotypes of polymorphism MTHFR 677C>T in all populations, and differences between the homocysteine concentrations according to the genotypes of MTHFR 677C>T were observed regardless of folate level.
Highlights
One-carbon metabolism plays an important role in complex and essential metabolic pathways, as hundreds of intracellular transmethylation reactions, including DNA methylation and DNA synthesis, have been implicated in carcinogenesis [1] and processes closely associated with homocysteine (Hcy) metabolism [2]
The objective of the present study was to investigate the frequency of the genetic variants accumulated evidence, there are gaps in the knowledge of the frequencies of genetic variants in several involved in one-carbon metabolism and to evaluate homocysteine concentrations in accordance with primarily healthy populations, and the impact of individual responses to diseases remains unknown
The results showed that (1) the allele frequencies in the population were in equilibrium and similar to those in other populations; (2) the genotype frequencies of methylenetetrahydrofolate reductase (MTHFR) 677C>T, MTRR 66A>G, and reduced folate carrier (RFC)-1 80G>A were significantly different according to race; and (3) statistically significant differences between the mean homocysteine concentrations according to the genotypes of MTHFR 677C>T were observed independently of folate level
Summary
One-carbon metabolism plays an important role in complex and essential metabolic pathways, as hundreds of intracellular transmethylation reactions, including DNA methylation and DNA synthesis, have been implicated in carcinogenesis [1] and processes closely associated with homocysteine (Hcy) metabolism [2]. Folate (B9) and other B vitamins, such as B6 and B12, are essential co-factors of one-carbon metabolism (Figure 1) [3]. 1. Overview one-carbon metabolism considering metabolites, enzymes, coenzymes, and FigureFigure. 1. Overview ofofone-carbon metabolism considering metabolites, enzymes, coenzymes, geneticvariants.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
