Abstract

The 677C>T polymorphism within methylenetetrahydrofolate reductase (MTHFR) gene is related to an elevated level of homocysteine. Thus it may be considered as a genetic risk factor in ischemic stroke. Apparently studies of this type of polymorphism in childhood stroke have shown conflicting results. We performed meta-analysis of all the data that are available in relation with MTHFR polymorphism and the risk of ischemic stroke in children. We searched PubMed (last search dated December 2010) using “MTHFR polymorphism”, “ischemic stroke” “child”, “children”, “pediatric stroke” as keywords and reference lists of studies and reviews on the topic. Finally, 15 case–control studies corresponded to the inclusion criteria for meta-analysis. These studies involved the total number of 822 children and adolescents after ischemic stroke and 1,552 control subjects. Fixed or random effects models were used depending on the heterogeneity between the studies. The association between ischemic stroke and 677C>T polymorphism within MTHFR gene was observed in three of the studies. The pooled analysis showed that TT genotype of MTHFR gene is more common in stroke patients than in controls (p = 0.0402, odds ratio = 1.57, 95 % confidence interval 1.02–2.41). The Egger’s test did not reveal presence of a publication bias. The results based on a sizeable group of cases and controls have proved that the 677C>T polymorphism in MTHFR gene is associated with the development of ischemic stroke in children.

Highlights

  • Ischemic stroke is a relatively rare disease in children

  • We aimed to describe the association between TT genotype of methylenetetrahydrofolate reductase (MTHFR) gene and the risk of childhood ischemic stroke by meta-analysis

  • In the first place we identified all articles published before December 2010 on the MTHFR 677C[T polymorphism and its association with ischemic stroke in pediatric patients

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Summary

Introduction

Ischemic stroke is a relatively rare disease in children. The incidence of the disease comes to about 3 children per 100,000 children per year [1, 2]. Data from family studies and twin studies suggest that genetic risk factors play an important role in the pathogenesis of ischemic stroke [3, 4]. Stroke is a multifactorial disease that may result from interactions between many risk factors: genetic and nongenetic, as well as environmental ones. Mortality and neurological deficits in pediatric stroke patients are significant and concern more than two thirds of the affected children [5]. Neurological deficits and poststroke disability place a heavy burden on the societies

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