The MTHFR 1298CC and 677TT genotypes have opposite associations with red cell folate levels.
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.
Parle-McDermott
Anne
A
School of Biochemistry and Immunology, Trinity College Dublin, Ireland.
Mills
James L
JL
Molloy
Anne M
AM
Carroll
Nicola
N
Kirke
Peadar N
PN
Cox
Christopher
C
Conley
Mary R
MR
Pangilinan
Faith J
FJ
Brody
Lawrence C
LC
Scott
John M
JM
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
D015415:Biomarkers; D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2)