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Role of MTHFR C677T polymorphism in ischemic stroke

Inusha Panigrahi1, Tathagata Chatterjee, Arijit Biswas

  • 1Department of Hematology, All India Institute of Medical Sciences, Ansari Nagar, Delhi - 110 029, India.

Neurology India
|May 9, 2006
PubMed

Insights

The MTHFR C677T polymorphism, particularly homozygosity, is linked to high homocysteine levels and increased ischemic stroke risk in North Indians. Folate levels may influence the MTHFR TT genotype

Area of Science:

  • Medical Genetics
  • Neurology
  • Cardiovascular Research

Background:

  • The methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism is associated with elevated homocysteine levels.
  • Hyperhomocysteinemia is a recognized risk factor for thrombotic events, including ischemic stroke.

Purpose of the Study:

  • To investigate the role of the MTHFR C677T polymorphism in North Indian individuals diagnosed with ischemic stroke.
  • To assess the association between MTHFR C677T genotype, homocysteine levels, and ischemic stroke risk.

Main Methods:

  • Prospective study recruiting ischemic stroke patients and healthy controls.
  • Measurement of plasma homocysteine, serum folate, and Vitamin B12 levels.
  • Detection of MTHFR C677T polymorphism using PCR-RFLP.

Main Results:

  • 12.5% of ischemic stroke patients exhibited high homocysteine levels.
  • Three of four patients with hyperhomocysteinemia were homozygous (TT) for the MTHFR C677T polymorphism.
  • Low serum folate levels were observed in two of the three homozygous MTHFR TT genotype cases.

Conclusions:

  • Primary hyperhomocysteinemia, largely due to MTHFR C677T homozygosity, is a significant risk factor for ischemic stroke in the North Indian population.
  • Serum folate levels might modulate the clinical presentation associated with the MTHFR TT genotype.
Abstract

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