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G1793A polymorphisms in the methylene-tetrahydrofolate gene: effect of folic acid on homocysteine levels.
Mol Nutr Food Res 2006; 50(8):769-74MN

Abstract

Mutations or polymorphisms in the gene of the enzyme methylenetetrahydrofolate (MTHFR) are associated with hyperhomocysteinemia and possibly with an elevated risk for vascular diseases. A study was conducted on 83 individuals with type 2 diabetes in order to determine the allelic and genotypic frequencies of the G1793A mutation and to assess the effect of folic acid supplementation on plasma homocysteine concentrations. The patients were attended by the Diabetes and Hypertension Program--Balneario Camboriu/SC and received daily supplements containing 1 mg of folic acid for 3 months. DNA was previously extracted from leukocytes and the G1793A mutation was detected by PCR-RFLP. Blood samples were collected during the basal period and after supplementation for the determination of homocysteine by HPLC, and of folic acid and vitamin B(12) by RIA. The allele frequency for the G1793A mutation was 3.01% and no homozygous individuals with mutant alleles were detected. Hyperhomocysteinemia was diagnosed in 27.71% of the patients, folic acid deficiency in 15.66%, and vitamin B(12) deficiency in 7.23%. Plasma homocysteine concentrations were inversely correlated with folic acid (r = -0.27, p = 0.01) and vitamin B(12) (r = -0.21; p = 0.05) concentrations. The individuals with a heterozygous genotype for the G1793A mutation showed borderlines or deficient values in folic acid and vitamin B(12) concentrations compared to individuals with a normal genotype. Hyperhomocysteinemia and the vitamin deficiencies presented by type 2 diabetic individuals, included with a heterozygous genotype for the G1793A mutation in the MTHFR gene, reached normal values by daily folic acid supplementation.

Authors+Show Affiliations

Nutrition Program, University of Vale do Itajaí, Itajaí, SC, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

16865747

Citation

Melo, Sandra Soares, et al. "G1793A Polymorphisms in the Methylene-tetrahydrofolate Gene: Effect of Folic Acid On Homocysteine Levels." Molecular Nutrition & Food Research, vol. 50, no. 8, 2006, pp. 769-74.
Melo SS, Persuhn DC, Meirelles MS, et al. G1793A polymorphisms in the methylene-tetrahydrofolate gene: effect of folic acid on homocysteine levels. Mol Nutr Food Res. 2006;50(8):769-74.
Melo, S. S., Persuhn, D. C., Meirelles, M. S., Jordao, A. A., & Vannucchi, H. (2006). G1793A polymorphisms in the methylene-tetrahydrofolate gene: effect of folic acid on homocysteine levels. Molecular Nutrition & Food Research, 50(8), pp. 769-74.
Melo SS, et al. G1793A Polymorphisms in the Methylene-tetrahydrofolate Gene: Effect of Folic Acid On Homocysteine Levels. Mol Nutr Food Res. 2006;50(8):769-74. PubMed PMID: 16865747.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - G1793A polymorphisms in the methylene-tetrahydrofolate gene: effect of folic acid on homocysteine levels. AU - Melo,Sandra Soares, AU - Persuhn,Darlene Camati, AU - Meirelles,Mônica S, AU - Jordao,Alceu Afonso, AU - Vannucchi,Helio, PY - 2006/7/26/pubmed PY - 2006/10/6/medline PY - 2006/7/26/entrez SP - 769 EP - 74 JF - Molecular nutrition & food research JO - Mol Nutr Food Res VL - 50 IS - 8 N2 - Mutations or polymorphisms in the gene of the enzyme methylenetetrahydrofolate (MTHFR) are associated with hyperhomocysteinemia and possibly with an elevated risk for vascular diseases. A study was conducted on 83 individuals with type 2 diabetes in order to determine the allelic and genotypic frequencies of the G1793A mutation and to assess the effect of folic acid supplementation on plasma homocysteine concentrations. The patients were attended by the Diabetes and Hypertension Program--Balneario Camboriu/SC and received daily supplements containing 1 mg of folic acid for 3 months. DNA was previously extracted from leukocytes and the G1793A mutation was detected by PCR-RFLP. Blood samples were collected during the basal period and after supplementation for the determination of homocysteine by HPLC, and of folic acid and vitamin B(12) by RIA. The allele frequency for the G1793A mutation was 3.01% and no homozygous individuals with mutant alleles were detected. Hyperhomocysteinemia was diagnosed in 27.71% of the patients, folic acid deficiency in 15.66%, and vitamin B(12) deficiency in 7.23%. Plasma homocysteine concentrations were inversely correlated with folic acid (r = -0.27, p = 0.01) and vitamin B(12) (r = -0.21; p = 0.05) concentrations. The individuals with a heterozygous genotype for the G1793A mutation showed borderlines or deficient values in folic acid and vitamin B(12) concentrations compared to individuals with a normal genotype. Hyperhomocysteinemia and the vitamin deficiencies presented by type 2 diabetic individuals, included with a heterozygous genotype for the G1793A mutation in the MTHFR gene, reached normal values by daily folic acid supplementation. SN - 1613-4125 UR - https://www.unboundmedicine.com/medline/citation/16865747/G1793A_polymorphisms_in_the_methylene_tetrahydrofolate_gene:_effect_of_folic_acid_on_homocysteine_levels_ L2 - https://doi.org/10.1002/mnfr.200600020 DB - PRIME DP - Unbound Medicine ER -