Affiliations: Department of Biochemistry and Medical Genetics,
School of Health Care, Medical University of Silesia, Katowice, Poland | Department of Neuropediatrics, School of Medicine,
Medical University of Silesia, Katowice, Poland
Note: [] Correspondence: Dr. Anna Balcerzyk, Medical University of
Silesia, Department of Biochemistry and Medical Genetics, Medyków 18,
40-752 Katowice, Poland. Tel.: +32 252 84 32; Fax: +32 252 84 32; E-mail:
[email protected]
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.
