engleski

Apolipoprotein E ε2-4 polymorphism in the etiology of perinatal ischemic stroke

OBJECTIVE: The cause of perinatal ischemic stroke (PAIS), being more frequent form of pediatric stroke, is not elucidated in most cases. Among investigated risk factors, apolipoprotein E (apoE) polymorphism ε2-4 has recently been associated with genetic susceptibility for PAIS (Gelfand AA et al, Pediatr Neurol 2013). Besides, presence of both fetal and maternal prothrombotic factors may have impact on PAIS onset. Therefore, we aimed to investigate the role of apoE ε2-4 polymorphism in the etiology of PAIS. METHODS: Genotyping of apoE ε2-4 polymorphism was performed using CVD Strip assay (ViennaLab, Austria) in 63 children with PAIS and in 147 controls. The same polymorphism was also investigated in 22 mother-child pairs with PAIS. RESULTS: ApoE ε4-containing genotypes (ε2ε4, ε3ε4 and ε4ε4) were identified more frequently in children with PAIS (17/63) compared to controls (19/147), resulting in OR of 2.49 (95% CI=1.19-5.20 ; p=0.023). ApoE ε4-containing genotypes were found in 7 out of 22 investigated mother-child pairs. In 4 mother-child pairs ε3ε4 genotype was present both in children and their mothers, whereas in 1 mother-child pair the child was a carrier of the ε3ε4 genotype while the mother was a carrier of the ε4ε4 genotype. In 2 mother-child pairs ε4-containing genotypes were found in mothers only. CONCLUSIONS: This study is concordant with previous findings of the association of apoE ε4 genotype with increased risk for PAIS. It also suggests possible involvement of maternal risk factor on child stroke onset. However, the effect has to be further investigated on larger number of mother- child pairs.

Genetics, Stroke

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