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

Anne Parle-McDermott, James L. Mills, Anne M. Molloy, Nicola Carroll, Peadar N. Kirke, Christopher Cox, Mary R. Conley, Faith J. Pangilinan, Lawrence C. Brody, John M. Scott

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)290-294
Number of pages5
JournalMolecular genetics and metabolism
Volume88
Issue number3
DOIs
StatePublished - Jul 2006
Externally publishedYes

Keywords

  • Cancer
  • Folate
  • Genetics
  • Homocysteine
  • MTHFR
  • Nutrition
  • Polymorphism
  • RCF
  • Vitamin B

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology

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