Homozygosity for the MTHFR 677 C-->T mutation was not associated with premature coronary artery disease (10.6% vs 10.5% in controls) or restenosis after coronary angioplasty (9.1%).
Case-Control (n=698)
Is the MTHFR gene mutation (nucleotide 677 C-->T) associated with premature coronary artery disease or restenosis after coronary angioplasty?
The MTHFR 677 C-->T mutation is not significantly associated with the risk of premature coronary artery disease or restenosis after coronary angioplasty.
Absolute Event Rate: 10.6% vs 10.5%
BACKGROUND: Hypermocysteinemia has been substantiated as a risk factor for occlusive vascular disease. A common mutation (nucleotide 677 C-->T) has been described recently in the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, which results in a valine for alanine substitution, a thermolabile enzyme, and a tendency to elevate plasma homocysteine levels and which has been proposed to contribute importantly to coronary artery disease. METHODS AND RESULTS: To study the potential influence of the mutation on ischemic heart disease, we screened 555 whites with angiographically documented coronary artery disease and 143 unrelated control subjects without a history of angina or myocardial infarction randomly selected from the community. The patients were in two groups: group 1 comprised 358 prospectively recruited individuals younger than 50 years, and group 2, 197 patients investigated prospectively for restenosis 6 months after coronary angioplasty. The frequency of homozygosity for the mutation was 10.5% in control subjects, 10.6% in group 1, and 9.1% in group 2 patients. There was no relationship between MTHFR genotype and number of coronary vessels with > 50% diameter obstruction, prior myocardial infarction, or restenosis after coronary angioplasty. Plasma folate concentrations in control subjects (n = 90) and patients (n = 208) showed closely similar distributions. CONCLUSIONS: Although it is accepted that moderate hyperhomocysteinemia significantly increases the risk for coronary, cerebrovascular, and peripheral vascular diseases, our data suggest that a mutation of the MTHFR gene, which has been associated with a thermolabile form of the enzyme and with hyperhomocysteinemia in subjects with plasma folate below the median, does not appear to be significantly associated with risk for premature coronary artery disease or for restenosis after coronary angioplasty.
Bockxmeer et al. (Tue,) conducted a case-control in Coronary artery disease (n=698). MTHFR 677 C-->T mutation vs. Control subjects without history of angina or myocardial infarction was evaluated on Frequency of homozygosity for the MTHFR mutation. Homozygosity for the MTHFR 677 C-->T mutation was not associated with premature coronary artery disease (10.6% vs 10.5% in controls) or restenosis after coronary angioplasty (9.1%).