title: The C242T polymorphism of the gene encoding cytochrome b-245 alpha is not associated with paediatric ischaemic stroke: family-based and case-control study.
abstract: OBJECTIVE
  Reactive oxygen species play an important role in the physiology and pathology of cerebral arteries, including ischaemic stroke. The cytochrome b-245 alpha gene (CYBA) encodes cytochrome b-245 alpha light chain (p22phox peptide), a critical element of NAD(P)H oxidases, the most important source of superoxide anion in the cerebral arteries. To search for genetic factors associated with paediatric ischaemic stroke, the possible association between CYBA gene C242T polymorphism and the disease was evaluated.
  
  
  METHODS
  The study group consisted of 238 individuals: children with ischaemic stroke (n = 70), their biological parents (n = 118) and children without any symptoms of stroke (n = 50). The C242T polymorphism was genotyped using polymerase chain reaction - restriction fragment length methodology. To evaluate the possible association between polymorphism and stroke, the transmission disequilibrium test and the case-control method were applied.
  
  
  RESULTS
  The C242 allele was transmitted more frequently than 242T (62.2% vs. 37.8%) but observed frequencies did not differ significantly from expected (p = 0.10). There were also no significant differences in allele and genotype distribution between patients and control subjects (patients: CC - 50.0%, CT - 38.6%, TT - 11.4% vs. controls: CC - 52.0%, CT - 36.0%, TT - 12.0%).
  
  
  CONCLUSIONS
  The study did not show that the C242T polymorphism of the CYBA gene is a risk factor of ischaemic stroke in children.
authors.affiliation: Department of Biochemistry and Medical Genetics, Medical University of Silesia, Medykow 18, 40-752 Katowice, Poland. pniemiec@sum.edu.pl
authors.forename: Paweł
authors.initials: P
authors.lastname: Niemiec
authors.forename: Iwona
authors.initials: I
authors.lastname: Zak
authors.forename: Ewa
authors.initials: E
authors.lastname: Emich-Widera
authors.forename: Anna
authors.initials: A
authors.lastname: Balcerzyk
authors.forename: Ilona
authors.initials: I
authors.lastname: Kopyta
authors.forename: Tomasz
authors.initials: T
authors.lastname: Nowak
authors.forename: Jerzy
authors.initials: J
authors.lastname: Wendorff
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Pałatyńska
authors.forename: Marek
authors.initials: M
authors.lastname: Kaciński
authors.forename: Karolina
authors.initials: K
authors.lastname: Pienczk-Ręcławowicz
authors.forename: Ewa
authors.initials: E
authors.lastname: Pilarska
mesh_terms: D000293:Adolescent; D000483:Alleles; D002545:Brain Ischemia / Q000235:genetics* / Q000517:prevention & control; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D019255:NADPH Oxidases / Q000235:genetics*; D011110:Polymorphism, Genetic; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012307:Risk Factors; D020521:Stroke / Q000235:genetics* / Q000517:prevention & control
chemical_list: D019255:NADPH Oxidases; C086986:CYBA protein, human