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Absence of association between a common mutation in the methylenetetrahydrofolate reductase gene and the risk of coronary artery disease
Author(s) -
Dieter P. Reinhardt,
Holger H. Sigusch,
S. Vogt,
K Farker,
Sigfrid A. Muller,
A Hoffmann
Publication year - 1998
Publication title -
european journal of clinical investigation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.164
H-Index - 107
eISSN - 1365-2362
pISSN - 0014-2972
DOI - 10.1046/j.1365-2362.1998.00242.x
Subject(s) - methylenetetrahydrofolate reductase , medicine , coronary artery disease , gene , cardiology , genetics , mutation , disease , biology , allele
Background Elevated total plasma homocysteine levels are associated with an increased risk of coronary artery disease. Plasma homocysteine levels are influenced by nutritional and hereditary factors. A point mutation (cytosin to thymidine substitution; C677→T) in the gene encoding methylenetetrahydrofolate reductase (MTHFR), has been reported to render the enzyme thermolabile and has been associated with elevations in homocysteine levels in homozygous carriers (TT genotype). Methods To examine the hypothesis that the T allele (coding for the thermolabile defect of MTHFR) influences the risk of coronary artery disease, we genotyped 340 patients with coronary artery disease and 105 control subjects in whom coronary artery disease was excluded by coronary angiography. Furthermore, we studied the genotype frequency in 104 age‐ and sex‐matched healthy persons as a control group without signs of atherosclerotic disease. Results Allele frequencies for C (wild‐type allele) and T allele (mutant allele) were 0.68 and 0.32 respectively in the healthy control subjects, 0.66 and 0.34 respectively in patients with angiographically excluded coronary artery disease and 0.69 and 0.31 respectively in coronary artery disease patients ( P = NS). The allele frequencies of the total study population were 0.68 and 0.32. Conclusion Our data show that homozygosity for the C677→T mutation in this European population is not associated with increased risk of coronary artery disease. This finding suggests that the C677→T mutation of the MTHFR gene does not represent a marker for increased cardiovascular risk.