title: The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels.
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.
authors.affiliation: School of Biochemistry and Immunology, Trinity College Dublin, Ireland.
authors.forename: Anne
authors.initials: A
authors.lastname: Parle-McDermott
authors.forename: James L
authors.initials: JL
authors.lastname: Mills
authors.forename: Anne M
authors.initials: AM
authors.lastname: Molloy
authors.forename: Nicola
authors.initials: N
authors.lastname: Carroll
authors.forename: Peadar N
authors.initials: PN
authors.lastname: Kirke
authors.forename: Christopher
authors.initials: C
authors.lastname: Cox
authors.forename: Mary R
authors.initials: MR
authors.lastname: Conley
authors.forename: Faith J
authors.initials: FJ
authors.lastname: Pangilinan
authors.forename: Lawrence C
authors.initials: LC
authors.lastname: Brody
authors.forename: John M
authors.initials: JM
authors.lastname: Scott
mesh_terms: D015415:Biomarkers / Q000097:blood; D004912:Erythrocytes / Q000378:metabolism*; D005260:Female; D005492:Folic Acid / Q000097:blood*; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006720:Homozygote; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D011247:Pregnancy; D011446:Prospective Studies
chemical_list: D015415:Biomarkers; D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)