Journal of Pediatric Neurology 2010; 08(02): 151-156
DOI: 10.3233/JPN-2010-0386
Georg Thieme Verlag KG Stuttgart – New York

Polymorphisms of the ABCA1 and PON1 genes in determining the predisposition to ischemic stroke in children

Anna Balcerzyk
a   Department of Biochemistry and Medical Genetics, School of Health Care, Medical University of Silesia, Katowice, Poland
,
Iwona Zak
a   Department of Biochemistry and Medical Genetics, School of Health Care, Medical University of Silesia, Katowice, Poland
,
Beata Sarecka-Hujar
a   Department of Biochemistry and Medical Genetics, School of Health Care, Medical University of Silesia, Katowice, Poland
,
Pawel Niemiec
a   Department of Biochemistry and Medical Genetics, School of Health Care, Medical University of Silesia, Katowice, Poland
,
Ilona Kopyta
b   Department of Neuropediatrics, School of Medicine, Medical University of Silesia, Katowice, Poland
,
Ewa Emich-Widera
b   Department of Neuropediatrics, School of Medicine, Medical University of Silesia, Katowice, Poland
› Author Affiliations

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Further Information

Publication History

21 April 2009

22 July 2009

Publication Date:
30 July 2015 (online)

Abstract

Ischemic stroke in children is rare when compared to adults; however, it is still among the 10 top causes of death in childhood and is more common than brain tumors. The pathology and the risk factors of stroke in children still remains poorly understood. Previous studies on Polish children after ischemic stroke showed that about 70% of them had dyslipidemia. Thus, looking for genetic factors associated with ischemic stroke in children, we decided to analyze some polymorphisms in genes involved in lipid metabolism. The aim of the study was to evaluate the possible association between the R219K polymorphism of the ABCA1 gene and the Q192R polymorphism of the PON1 gene and ischemic stroke in children. The study population consisted of 250 individuals, white Polish Caucasians, including 60 children with ischemic stroke, 120 their biological parents and 70 children without any signs of ischemic stroke. Polymorphisms were genotyped using the polymerase chain reaction-restriction fragments length polymorphism method. To analyze the possible association between the studied polymorphisms and stroke the transmission/disequilibrium test and the case-control model were used. We did not observe any preferential distribution of any allele of the analyzed polymorphisms from parents to the affected children. The number of transmitted alleles of both genes did not differ significantly from expected 50%:50%. There were also no significant differences in genotypes and alleles distribution between patients and control children. The results of our study suggest that neither the R219K polymorphism of the ABCA1 gene nor the Q192R polymorphism of the PON1 gene may be regarded as genetic risk factors for ischemic stroke in Polish children.