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Clinical relevance • Literature     

Methylenetetrahydrofolate Reductase (MTHFR)


Determination of the C677T polymorphism in the coronary artery disease Marker gene MTHFR



Clinical relevance

Hyperhomocysteinemia has emerged as a riskfactor for coronary artery disease (1).

The metabolism of homocysteine occurs through two pathways. Genetic defects in genes of the involved enzymes are associated with hyperhomocysteinemia. One of the pathways contains the enzyme methylenetetrahydrofolate reductase (MTHFR), which catalyses the remethylation of homocysteine to methionine.

A common polymorphism in the MTHFR gene correlates with the characteristics of a thermolabile MTHFR protein. The heat-sensitive variant of the enzyme has only 50% of the activity of the normal enzyme (2). The mutation responsible for this form is a C (cytosin) to T (thymidine) substitution at nucleotide 677 of the coding sequence which converts an alanine to a valine residue (3).

The plasma homocysteine levels in individuals homozygous for this mutation were significantly higher than those of other individuals (3).

The MTHFR-C677T polymorphism is very common. About 40% of the population are homozygous for the wildtype C677, 45% are heterozyous for both alleles C677 and T677 and about 15% are homozygous carrier for the T677 mutated allele (4).

Several investigations have shown that the homozygous mutated genotype is a independent risk factor for coronary artery disease (3, 5-7).


McCully KS (1996)
Homocysteine and vascular disease
Nat Med 2: 386-389
Kang SS, Wong PWK, Susmano A ... (1991)
Thermolabile methylenetetrahydrofolate reductase: an inherited risk factor for coronary artery disease
Am J Hum Genet 48: 536-545
Frosst P, Blom HJ, Milos R ... (1995)
A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase
Nat Genet 10: 111-113
Bowen DJ, Bowley S, John M ... (1998)
Factor V Leiden (G1691A), the Prothrombin 3´-Untranslated Region Variant (G20210A) and Thermolabile Methylenetetrahydrofolat Reductase (C677T): A Single Genetic Test Genotypes all Three Loci - Determination of Frequencies in the S. Wales Population of the UK
Thromb Haemost 79: 949-954
Lastrucci RM, Dawson DA, Munster M (1999)
Development of an internal restriction control in the PCR detection of the methylenetetrahydrofolate reductase (MTHFR) C677T mutation
Mol Diagn 4: 159-161
Morita H, Taguchi J, Kurihara H ... (1997)
Genetic Poymorphism of 5,10-Methylenetetrahydro-folate Reductase (MTHFR) as a Risk Factor for Coronary Artery Disease
Circulation 95: 2032-2036
Kluijtmans LA, van den Heuvel LP Boers GH ... (1996)
Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
Am J hum Genet 58: 35-41
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