Association of the MTHFR Val/Val genotype with peripheral arterial occlusive disease and abdominal aortic aneurysms
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文摘
A C → T substitution of codon 677 of the MTHFR gene converts an alanine to a valine residue and causes a thermolabile form of the 5,10-Methylene-tetrahydrofolatereductase with reduced enzyme activity. Homozygosity for this mutation results in elevated plasma homocysteine levels. Hyperhomocysteinaemia has been established as an independent risk factor for prematur vascular disease. In previous studies the mutation was found in 38 % of unselected chromosomes. 15 % () of cardiovascular patients were found to be homozygous for the mutation compared to 5 % () of the controls. In another study 30 % () of patients with premature vascular disease the val/val genotype of the mutation.