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Nutrients 2017, 9(6), 539; doi:10.3390/nu9060539

Genetic Variants Involved in One-Carbon Metabolism: Polymorphism Frequencies and Differences in Homocysteine Concentrations in the Folic Acid Fortification Era

1
Department of Nutrition, School of Public Health, Sao Paulo University, Avenida Doutor Arnaldo, 715-Cerqueira César, São Paulo—SP, São Paulo 01246-904, Brazil
2
Department of Legal Medicine, Bioethics and Occupational Health, School of Medicine, University of São Paulo, Avenida Doutor Arnaldo, 455-Cerqueira César, São Paulo—SP, São Paulo 01246-903, Brazil
*
Author to whom correspondence should be addressed.
Received: 24 March 2017 / Revised: 28 April 2017 / Accepted: 18 May 2017 / Published: 25 May 2017
(This article belongs to the Special Issue Nutrigenetics)
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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. View Full-Text
Keywords: one-carbon metabolism; folic acid fortification; genetic variants; homocysteine; polymorphisms one-carbon metabolism; folic acid fortification; genetic variants; homocysteine; polymorphisms
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MDPI and ACS Style

Steluti, J.; Carvalho, A.M.; Carioca, A.A.F.; Miranda, A.; Gattás, G.J.F.; Fisberg, R.M.; Marchioni, D.M. Genetic Variants Involved in One-Carbon Metabolism: Polymorphism Frequencies and Differences in Homocysteine Concentrations in the Folic Acid Fortification Era. Nutrients 2017, 9, 539.

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