Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms

Acta Neurol Scand. 2006 May;113(5):307-14. doi: 10.1111/j.1600-0404.2005.00556.x.


Aim: Some methylenetetrahydrofolate reductase (MTHFR) gene mutations cause hyperhomocysteinemia and homocystinuria. These may be important risk factors for cardio and cerebrovascular diseases. We investigated whether the MTHFR C677T and A1298C polymorphisms contribute to hyperhomocysteinemia and increase the risk factor for stroke.

Methods: A total of 203 acute stroke patients and 55 controls were recruited. Polymorphisms were determined by using polymerase chain reaction-restriction fragment length polymorphism (RFLP) and plasma total homocysteine levels were measured by enzyme-linked immunosorbent assay (ELISA).

Results and conclusions: There were no significant differences between C677T and A1298C genotypes and allele frequencies in the stroke patients and controls. Total plasma homocysteine level was higher in the 677TT and 1298AA genotypes in stroke patients and especially small-vessel disease patient subgroup. Age, number of males, systolic-diastolic blood pressures, creatinine, vitamin B(12) and homocysteine levels were significantly high among stroke patients. Age, sex, systolic blood pressure and HDL-C were determined as risk factors for homocysteine levels. We also determined that the effect of A1298C polymorphism on homocysteine was not as high as that of C677T polymorphism in acute stroke patients. We conclude that the MTHFR genotype may be a modest risk factor for stroke in Turkish population.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Case-Control Studies
  • Female
  • Homocysteine / blood*
  • Humans
  • Male
  • Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
  • Middle Aged
  • Point Mutation / genetics*
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*
  • Risk Factors
  • Stroke / blood*
  • Stroke / genetics*


  • Homocysteine
  • Methylenetetrahydrofolate Reductase (NADPH2)