The MTHFR gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids. The enzyme is important for a chemical reaction involving forms of folate, which is a vitamin also called folic acid or vitamin B9. Specifically, methylenetetrahydrofolate reductase converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, which is required for the conversion of the amino homocysteine to another amino acid, methionine. The body uses methionine to make proteins and other important compounds.

A specific variant in the MTHFR gene, the C677T variant, has been associated with an increased risk of cardiovascular disease including coronary heart disease and stroke in adults. It may also play a role in the risk of high blood pressure in pregnancy (preeclampsia). Research suggests that the variant may be a risk factor for birth defects that occur during the development of the brain and spinal cord (neural tube defects). Many factors play a part in determining the risk of these complex disorders, however.

The C677T variant replaces the nucleotide cytosine with thymine at position 677 in the MTHFR gene. This change in the gene produces a form of the methylenetetrahydrofolate reductase enzyme that is thermolabile, which means that it has reduced activity at higher temperatures. People with the thermolabile form of the enzyme have increased levels of homocysteine in their blood.

This product is for genotyping of the C677T variant of the MTHFR gene. The mutation allele frequency ranges from 5% to 40% among different ethnicities.