Article
Functional inference of the methylenetetrahydrofolate reductase 677C > T and 1298A > C polymorphisms from a large-scale epidemiological study.
Human genetics - 1 Mar 2007
Ulvik Arve, Ueland Per M, Fredriksen Ase, Meyer Klaus, Vollset Stein Emil, Hoff Geir, Schneede Jørn
Abstract excerpt
Two functional single nucleotide polymorphisms, 677C > T and 1298A > C have been described for the methylenetetrahydrofolate (MTHFR) gene. Both are associated with reduced enzyme activity in vitro. For the 677T, but not the 1298C allele, significantly lower serum folate and higher plasma total homocysteine (tHcy) have been reported. We genotyped 10,034 middle-aged (50-64 years old) subjects and measured serum...
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