TY - JOUR
T1 - A common mutation A1298C in human methylenetetrahydrofolate reductase gene
T2 - Association with plasma total homocysteine and folate concentrations
AU - Friedman, Gideon
AU - Goldschmidt, Netta
AU - Friedlander, Yechiel
AU - Ben-Yehuda, Arie
AU - Selhub, Jacob
AU - Babaey, Sharona
AU - Mendel, Malka
AU - Kidron, Miriam
AU - Bar-On, Hanoch
PY - 1999
Y1 - 1999
N2 - Methylenetetrahydrofolate 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.
AB - Methylenetetrahydrofolate 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.
KW - Folate
KW - Homocysteine
KW - Humans
KW - Methylenetetrahydrofolate reductase mutation
UR - http://www.scopus.com/inward/record.url?scp=0032865186&partnerID=8YFLogxK
U2 - 10.1093/jn/129.9.1656
DO - 10.1093/jn/129.9.1656
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C2 - 10460200
AN - SCOPUS:0032865186
SN - 0022-3166
VL - 129
SP - 1656
EP - 1661
JO - Journal of Nutrition
JF - Journal of Nutrition
IS - 9
ER -