A common mutation A1298C in human methylenetetrahydrofolate reductase gene: Association with plasma total homocysteine and folate concentrations

被引:223
作者
Friedman, G [1 ]
Goldschmidt, N
Friedlander, Y
Ben-Yehuda, A
Selhub, J
Babaey, S
Mendel, M
Kidron, M
Bar-On, H
机构
[1] Hebrew Univ Jerusalem, Hadassah Med Ctr, Geriatr Unit, Lipid Res Lab, Jerusalem, Israel
[2] Hebrew Univ Jerusalem, Hadassah Med Ctr, Dept Social Med, Sch Publ Hlth & Community Med, Jerusalem, Israel
[3] Hebrew Univ Jerusalem, Hadassah Med Ctr, Diabet Unit, Jerusalem, Israel
[4] Tufts Univ, New England Med Ctr, Jean Mayer US Dept Agr, Human Nutr Res Ctr, Boston, MA 02111 USA
关键词
methylenetetrahydrofolate reductase mutation folate; homocysteine; humans;
D O I
10.1093/jn/129.9.1656
中图分类号
R15 [营养卫生、食品卫生]; TS201 [基础科学];
学科分类号
100403 ;
摘要
Methyleneletrahydrofolate reductase (MTHFR) is one of the main regulatory enzymes of homocysteine metabolism. Previous studies revealed that a common mutation in MTHFR gene C677T is related to hyperhomocysteinemia and occlusive vascular pathology. In the current study, we determined the prevalence of a newly described mutation in the human MTHFR gene A1298C, and the already known C677T mutation, and related them to plasma total homocysteine and folate concentrations. We studied 377 Jewish subjects, including 190 men and 186 women aged 56.8 +/- 13 y (range 32-95 y). The frequency of the homozygotes for the A1298C and the C677T MTHFR mutations was common in the Jewish Israeli population (0.34 and 0.37, respectively). Subjects homozygous (TT) for the C677T mutation had significantly greater plasma total homocysteine concentrations (P < 0.01) than subjects without the mutation (CC). Homozygotes (CC) for the A1298C mutation did not have elevated plasma total homocysteine concentrations. Our study indicated that subjects with the 677CC/ 1298CC genotype had significantly lower concentrations (P < 0.05) than those with a 677CC/1298AA genotype. Neither mutation (the A1298C and the C677T) was associated with established cardiovascular risk factors such as hypertension, elevated total cholesterol or body mass index.
引用
收藏
页码:1656 / 1661
页数:6
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