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Hyperhomocysteinemia, C677T MTHFR polymorphism and ischemic stroke in Tunisian patients

Olfa Ben Salem-Berrabah1, Ridha Mrissa, Salem Machghoul

  • 1Hematology Department, Military Hospital, 1008 Mont-Fleury, Tunis, Tunisia.

La Tunisie Medicale
|September 3, 2010
PubMed

Insights

High homocysteine levels significantly increase ischemic stroke risk. The MTHFR C677T gene mutation was not associated with stroke or homocysteine levels in this study. This highlights homocysteine as a key risk factor.

Area of Science:

  • Neurology
  • Genetics
  • Cardiovascular Science

Background:

  • Hyperhomocysteinaemia is a recognized risk factor for ischemic stroke (IS).
  • The MTHFR C677T gene mutation is linked to elevated plasma homocysteine (Hcy) levels.

Purpose of the Study:

  • To investigate the association between hyperhomocysteinaemia and/or MTHFR C677T mutation with ischemic stroke.
  • To assess the role of these factors in a Tunisian population.

Main Methods:

  • A case-control study involving 50 IS patients and 97 controls.
  • Measurement of plasma homocysteine levels and MTHFR C677T genotypes.
  • Analysis of other risk factors including hypertension, obesity, dyslipidemia, diabetes, recurrent stroke, tobacco, and alcohol use.

Main Results:

  • Mean plasma homocysteine levels were significantly higher in IS patients compared to controls (p=0.04).
  • No association was found between the MTHFR C677T variant and homocysteine levels or ischemic stroke.
  • Hyperhomocysteinemic subjects had a 2.4-fold increased risk of developing ischemic stroke (OR=2.4; 95% CI: 1.13-5.06; p<0.05).

Conclusions:

  • Elevated homocysteine levels are a significant risk factor for arterial ischemic stroke.
  • The MTHFR C677T polymorphism does not appear to be a risk factor for ischemic stroke in this population.
  • Findings suggest targeted homocysteine level management may be crucial for stroke prevention.
Abstract

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