Abstract
Methylenetetrahydrofolate reductase is an enzyme encoded by the MTHFR gene that uses folate to metabolize homocysteine to methionine. The most common genetic variant is a C667T polymorphism resulting in an enzyme with 50% less activity. 10%-15% of North American Caucasians are homozygous for this genotype, tending to have higher homocysteine and lower serum folate levels compared with controls. There is epidemiologic data to support that hyperhomocysteinemia leads to increased risk of thrombosis, coronary heart disease, and pregnancy loss.
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