MTHFR
MTHFR is an enzyme involved in the final methylation step of folate, transforming 5,10-methylenetetrahydrofolate to 5-methylenetetrahydrofolate. Polymorphisms in the MTHFR gene are associated with a decrease in this enzymatic activity, which increases the need for folate; between 15% and 30% of people have this polymorphism. Variants in the MTHFR gene generally result in lower enzyme activity. The C677T variant, which occurs in about 30% of people, can result in significantly reduced levels of 5-MTHF - up to a 40% reduction for heterozygotes (CT) and 70% for homozygotes (TT).
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