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Acute stroke in relation to homocysteine and methylenetetrahydrofolate reductase gene polymorphisms

M Dikmen1, D Ozbabalik, H V Gunes

  • 1Department of Medical Biology, Medical Faculty, Osmangazi University, Eskisehir, Turkey. mdikmen@ogu.edu.tr

Acta Neurologica Scandinavica
|April 25, 2006
PubMed

Insights

Methylenetetrahydrofolate reductase (MTHFR) gene variants C677T and A1298C may influence stroke risk by affecting homocysteine levels. Elevated homocysteine was linked to specific MTHFR genotypes in Turkish stroke patients, suggesting a modest genetic risk factor.

Area of Science:

  • Genetics and Molecular Biology
  • Cardiovascular and Cerebrovascular Diseases
  • Biochemistry

Background:

  • Methylenetetrahydrofolate reductase (MTHFR) gene mutations are linked to hyperhomocysteinemia and homocystinuria.
  • Elevated homocysteine levels are potential risk factors for cardiovascular and cerebrovascular diseases.

Purpose of the Study:

  • To investigate the association between MTHFR gene polymorphisms (C677T and A1298C) and hyperhomocysteinemia.
  • To determine if these MTHFR polymorphisms increase stroke risk.

Main Methods:

  • Study included 203 acute stroke patients and 55 controls.
  • MTHFR polymorphisms analyzed using polymerase chain reaction-restriction fragment length polymorphism (RFLP).
  • Plasma total homocysteine levels measured via enzyme-linked immunosorbent assay (ELISA).

Main Results:

  • No significant differences in C677T and A1298C genotype or allele frequencies between stroke patients and controls.
  • Higher plasma homocysteine levels observed in stroke patients with 677TT and 1298AA genotypes, particularly in the small-vessel disease subgroup.
  • Age, blood pressure, creatinine, vitamin B12, and homocysteine levels were significantly higher in stroke patients.

Conclusions:

  • MTHFR genotype may represent a modest risk factor for stroke in the Turkish population.
  • The C677T polymorphism appears to have a greater impact on homocysteine levels than the A1298C polymorphism in acute stroke patients.
  • Age, sex, systolic blood pressure, and HDL-C are identified as risk factors for elevated homocysteine levels.
Abstract

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