Abstract

BackgroundCerebral ischemia involves a series of reactions which ultimately influence the final volume of a brain infarction. We hypothesize that polymorphisms in genes encoding proteins involved in these reactions could act as modifiers of the cerebral response to ischemia and impact the resultant stroke volume. The final volume of a cerebral infarct is important as it correlates with the morbidity and mortality associated with non-lacunar ischemic strokes.MethodsThe proteins encoded by the methylenetetrahydrofolate reductase (MTHFR) and glutathione S-transferase omega-1 (GSTO-1) genes are, through oxidative mechanisms, key participants in the cerebral response to ischemia. On the basis of these biological activities, they were selected as candidate genes for further investigation. We analyzed the C677T polymorphism in the MTHFR gene and the C419A polymorphism in the GSTO-1 gene in 128 patients with non-lacunar ischemic strokes.ResultsWe found no significant association of either the MTHFR (p = 0.72) or GSTO-1 (p = 0.58) polymorphisms with cerebral infarct volume.ConclusionOur study shows no major gene effect of either the MTHFR or GSTO-1 genes as a modifier of ischemic stroke volume. However, given the relatively small sample size, a minor gene effect is not excluded by this investigation.

Highlights

  • Cerebral ischemia involves a series of reactions which influence the final volume of a brain infarction

  • We hypothesize that there is variability in the cerebral response to ischemia that is mediated by polymorphisms in genes encoding proteins which participate in this response

  • The genotypes of the methylenetetrahydrofolate reductase (MTHFR) C677T and glutathione S-transferase omega-1 (GSTO-1) C419A polymorphisms are presented in table 2

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Summary

Introduction

Cerebral ischemia involves a series of reactions which influence the final volume of a brain infarction. We hypothesize that polymorphisms in genes encoding proteins involved in these reactions could act as modifiers of the cerebral response to ischemia and impact the resultant stroke volume. We hypothesize that there is variability in the cerebral response to ischemia that is mediated by polymorphisms in genes encoding proteins which participate in this response Polymorphisms in these genes could enhance or diminish endogenous neuroprotective mechanisms and impact the volume of an ischemic stroke. This has clinical significance because, in general, the volume of a stroke correlates with severity and the resultant degree of disability of the patient [7,8]

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