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Mol Genet Metab. 2006 Jul;88(3):290-4. Epub 2006 Apr 18.

The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels.

Author information

1
School of Biochemistry and Immunology, Trinity College Dublin, Ireland.

Abstract

Individuals homozygous for the thermolabile variant (677TT) of methylenetetrahydrofolate reductase exhibit reduced folate status as evidenced by a drop in the biomarker red cell folate (RCF) compared to those who carry at least one 677C allele. We now report that a different polymorphism in the same enzyme, namely 1298A>C, is associated with increased RCF levels. Thus, these two common polymorphisms change a metabolic phenotype in opposite directions suggesting that their cancer protective associations are by different mechanisms.

PMID:
16621645
DOI:
10.1016/j.ymgme.2006.02.011
[Indexed for MEDLINE]

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