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Homozygous C677T mutation in the MTHFR gene as an independent risk factor for multiple small-artery occlusions

B O Choi1, N K Kim, S H Kim

  • 1Department of Neurology, College of Medicine, Pochon CHA University, Sungnam, South Korea.

Thrombosis Research
|December 4, 2003
PubMed

Insights

The MTHFR TT genotype is linked to multiple small-artery occlusions, a subtype of ischemic stroke. This genetic factor is not associated with single small-artery occlusions, suggesting a specific genetic basis for stroke subtypes.

Area of Science:

  • Genetics
  • Neurology
  • Cardiovascular Disease

Background:

  • Hyperhomocysteinemia is a known risk factor for cerebrovascular disease.
  • The methylenetetrahydrofolate reductase (MTHFR) gene C677T mutation can cause hyperhomocysteinemia.
  • The link between the MTHFR 677TT genotype and ischemic stroke is debated.

Purpose of the Study:

  • To investigate the association between the MTHFR TT genotype and specific ischemic stroke subtypes.
  • To clarify the role of MTHFR C677T polymorphism in ischemic stroke etiology.

Main Methods:

  • Case-control study involving 195 ischemic stroke patients and 198 healthy controls.
  • Measurement of fasting plasma homocysteine levels.
  • Analysis of MTHFR gene C677T polymorphism.

Main Results:

  • Stroke occurrence correlated with hyperhomocysteinemia, but not the 677TT genotype overall.
  • The MTHFR 677TT genotype showed a significant association with small-artery occlusion stroke (AOR 2.92).
  • A stronger association was observed for multiple small-artery occlusions (AOR 6.90), but not single small-artery occlusions (AOR 1.19).

Conclusions:

  • The MTHFR gene's homozygous C677T mutation is specifically associated with multiple small-artery occlusions.
  • This finding suggests a genetic predisposition for certain ischemic stroke subtypes.
  • The study highlights a potential genetic basis for the heterogeneity of ischemic stroke.
Abstract

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