Methylene tetrahydrofolate reductase C677T genotype and stroke

High levels of homocysteine are associated with atherosclerosis. A thermolabile form of the enzyme methylene tetrahydrofolate reductase (MTHFR) has been proposed as a major cause of a genetic predisposition to hyperhomocysteinaemia and a point mutation at nucleotide 677 of the MTHFR gene causing a thermolabile MTHFR has been described. We looked for this mutation in 271 patients with CT proven cerebrovascular accidents and 173 control subjects. No significant difference in the frequency of the mutant genotype was found between patients with strokes and the control group. Separate analysis of those under 65 and subdividing stroke patients by anatomical location also revealed no significant difference. We conclude, therefore, that in this population the mutation evaluated is not a major contributor to the aetiology of cerebrovascular disease.