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

Mol Genet Metab. 2006 Jul;88(3):290-4. doi: 10.1016/j.ymgme.2006.02.011. Epub 2006 Apr 18.

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.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Biomarkers / blood
  • Erythrocytes / metabolism*
  • Female
  • Folic Acid / blood*
  • Genotype
  • Homocysteine / blood
  • Homozygote
  • Humans
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Polymorphism, Single Nucleotide*
  • Pregnancy
  • Prospective Studies

Substances

  • Biomarkers
  • Homocysteine
  • Folic Acid
  • Methylenetetrahydrofolate Reductase (NADPH2)