Elevated homocysteine? Consider testing for folate metabolism gene variants

Abstract

Folate metabolism is fundamental to health, as it closely regulates homocysteine level. Recent research suggests there is a genomic basis for individual variation in folate metabolism related to single nucleotide polymorphisms (SNPs). This article describes how two SNPs, both of which are methylenetetrahydrofolate reductase (MTHFR) variants, can affect the way an individual metabolizes folate, resulting in elevated homocysteine level, and why testing for these SNPs may be important.