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Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children.
Am J Med Genet A 2004; 128A(3):256-60AJ

Abstract

Hyperhomocysteinemia is a risk factor for thrombosis, and methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms, folate, and B12 levels could contribute to plasma homocysteine (Hcy) variation. Although well established in adults, few studies have been performed in childhood. In this study, we investigated association of polymorphisms C677T and A1298C in the MTHFR gene and A66G in the MTRR gene with Hcy levels in children. These polymorphisms, as well as Hcy, folate, and vitamin B12 levels were investigated in 220 normal children with ages ranging from 1 to 8 years. Plasma Hcy, folate, and vitamin B12 levels were normal in all children. None of the polymorphisms could be considered an independent risk factor for hyperhomocysteinemia during childhood. The median Hcy levels in 37 children (17%) doubly heterozygous for C677T and A1298C mutations in the MTHFR gene were not different from the other genotypes. However, the association of the different genotypes with Hcy, folate, and vitamin B12 levels demonstrated significant P-values. The folate levels demonstrated a statistically significant decrease (P = 0.0477) from the C677T mutation in the MTHFR gene (TT genotype) when compared to the other groups. Folate was the only independent risk factor for hyperhomocysteinemia. Thus, monitoring the concentrations of folate would be more helpful for evaluating hyperhomocysteinemia and for preventing cardiovascular disease.

Authors+Show Affiliations

Hematology-Hemotherapy Center, Faculty of Medical Sciences, State University of Campinas (UNICAMP), Campinas, SP, Brazil.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

15216546

Citation

Aléssio, Ana Claudia M., et al. "Polymorphisms in the Methylenetetrahydrofolate Reductase and Methionine Synthase Reductase Genes and Homocysteine Levels in Brazilian Children." American Journal of Medical Genetics. Part A, vol. 128A, no. 3, 2004, pp. 256-60.
Aléssio AC, Annichino-Bizzacchi JM, Bydlowski SP, et al. Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children. Am J Med Genet A. 2004;128A(3):256-60.
Aléssio, A. C., Annichino-Bizzacchi, J. M., Bydlowski, S. P., Eberlin, M. N., Vellasco, A. P., & Höehr, N. F. (2004). Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children. American Journal of Medical Genetics. Part A, 128A(3), pp. 256-60.
Aléssio AC, et al. Polymorphisms in the Methylenetetrahydrofolate Reductase and Methionine Synthase Reductase Genes and Homocysteine Levels in Brazilian Children. Am J Med Genet A. 2004 Jul 30;128A(3):256-60. PubMed PMID: 15216546.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children. AU - Aléssio,Ana Claudia M, AU - Annichino-Bizzacchi,Joyce M, AU - Bydlowski,Sergio P, AU - Eberlin,Marcos N, AU - Vellasco,Adriana P, AU - Höehr,Nelci Fenalti, PY - 2004/6/25/pubmed PY - 2005/1/26/medline PY - 2004/6/25/entrez SP - 256 EP - 60 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 128A IS - 3 N2 - Hyperhomocysteinemia is a risk factor for thrombosis, and methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisms, folate, and B12 levels could contribute to plasma homocysteine (Hcy) variation. Although well established in adults, few studies have been performed in childhood. In this study, we investigated association of polymorphisms C677T and A1298C in the MTHFR gene and A66G in the MTRR gene with Hcy levels in children. These polymorphisms, as well as Hcy, folate, and vitamin B12 levels were investigated in 220 normal children with ages ranging from 1 to 8 years. Plasma Hcy, folate, and vitamin B12 levels were normal in all children. None of the polymorphisms could be considered an independent risk factor for hyperhomocysteinemia during childhood. The median Hcy levels in 37 children (17%) doubly heterozygous for C677T and A1298C mutations in the MTHFR gene were not different from the other genotypes. However, the association of the different genotypes with Hcy, folate, and vitamin B12 levels demonstrated significant P-values. The folate levels demonstrated a statistically significant decrease (P = 0.0477) from the C677T mutation in the MTHFR gene (TT genotype) when compared to the other groups. Folate was the only independent risk factor for hyperhomocysteinemia. Thus, monitoring the concentrations of folate would be more helpful for evaluating hyperhomocysteinemia and for preventing cardiovascular disease. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15216546/Polymorphisms_in_the_methylenetetrahydrofolate_reductase_and_methionine_synthase_reductase_genes_and_homocysteine_levels_in_Brazilian_children_ L2 - https://doi.org/10.1002/ajmg.a.30108 DB - PRIME DP - Unbound Medicine ER -