Polymorphisms in the methylenetetrahydrofolate reductase and methionine synthase reductase genes and homocysteine levels in Brazilian children

被引:34
作者
Aléssio, ACM
Annichino-Bizzacchi, JM
Bydlowski, SP
Eberlin, MN
Vellasco, AP
Höehr, NF
机构
[1] UNICAMP, Fac Med Sci, Dept Clin Pathol, BR-13084971 Campinas, SP, Brazil
[2] UNICAMP, Fac Med Sci, Hematol Hemotherapy Ctr, BR-13084971 Campinas, SP, Brazil
[3] UNICAMP, Inst Chem, BR-13084971 Campinas, SP, Brazil
[4] Univ Sao Paulo, Hematol Hemotherapy Ctr, Sao Paulo, Brazil
关键词
homocysteine; methylenetetrahydrofolate reductase; methionine synthase reductase; children;
D O I
10.1002/ajmg.a.30108
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Hyperhomocysteinemia is a risk factor for thrombosis, and methylenetetrahydrofolate reductase (MTHFR) and methionine synthase reductase (MTRR) polymorphisins, folate, and B-12 levels could contribute to plasma homocysteine (Hey) 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 Hey levels in children. These polymorphisms, as well as Hey, folate, and vitamin B12 levels were investigated in 220 normal children with ages ranging from 1 to 8 years. Plasma Hey, folate, and vitamin B12 levels were normal in all children. None of the polymorphisins could be considered an independent risk factor for hyperhomocysteinemia during childhood. The median Hey 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 Hey, 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. (C) 2004 Wiley-Liss, Inc.
引用
收藏
页码:256 / 260
页数:5
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