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Methylenetetrahydrofolate reductase(MTHFR): incidence ofmutations C677T andA1298C in Brazilianpopulation and itscorrelation withplasma homocysteine… Ana Beatriz Alvarez PérezVânia D’AlmeidaNaja Vergani2002 год

Methylenetetrahydrofolate reductase (MTHFR): incidence of mutations C677T and A1298C in Brazilian population and its correlation with plasma homocysteine levels in spina bifida
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Аннотация: Abstract Homocysteine (Hcy) is converted to cysteine or is remethylated to methionine by methylenetetrahydrofolate reductase (MTHFR). MTHFR plays a central role in the metabolism of folate. Two common polymorphisms in the MTHFR gene (C677T and A1298C) have been described and studies suggest that these polymorphisms are positively associated with the occurrence of spina bifida (SB). Among Brazilians, the incidence of 677T allele homozygosity is 4%. We compared Hcy levels with the genotypes obtained for the mutations C677T and A1298C in the gene MTHFR . Levels of plasma Hcy were higher in children with SB than in controls (average 7.95 vs. 5.55 (μmol/L); P < 0.001). There was no significant difference in the levels of Hcy for these childrens's mothers and controls (average 7.76 vs. 8.36 (μmol/L); P = 0.27). Eighty one (61.8%) of the affected children were white and 50 (38.2%) were non‐white. A similar ratio was observed in the mothers. In the control group, 51 children (40.5%) were white and 75 (59.5%) were non‐white, and 52 mothers (41.3%) were white and 74 (58.7%) were non‐white. There was no significant difference in the homozygous frequency for the mutated allele 677T among different racial groups. We obtained a prevalence of TT homozygosity of 10/131 (7.64%) in affected children and 13/126 (10.32%) in controls. With respect to the mutation A1298C, the homozygous prevalence for the wild allele was greater among non‐white individuals than in white individuals both in case and control groups. Hyperhomocysteinemia is a risk factor for SB. However, in our population, the increase in plasma levels of Hcy is not explained by the presence of the homozygous TT. It is possible that low folic acid intake combined with other genetic factors plays a more important role in the cause of this disease. © 2003 Wiley‐Liss, Inc.
Год издания: 2002
Авторы: Ana Beatriz Alvarez Pérez, Vânia D’Almeida, Naja Vergani, Allan Chiaratti de Oliveira, Fernanda Teresa de Lima, Décio Brunoni
Издательство: Wiley
Источник: American Journal of Medical Genetics Part A
Ключевые слова: Folate and B Vitamins Research, Esophageal and GI Pathology, Prenatal Screening and Diagnostics
Другие ссылки: American Journal of Medical Genetics Part A (HTML)
PubMed (HTML)