Vol 44, No 5 (2010)

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The C242T polymorphism of the gene encoding cytochrome b-245 alpha is not associated with paediatric ischaemic stroke: family-based and case-control study

Paweł Niemiec1, Iwona Żak1, Ewa Emich-Widera2, Anna Balcerzyk1, Ilona Kopyta2, Tomasz Nowak1, Jerzy Wendorff3, Katarzyna Pałatyńska3, Marek Kaciński4, Karolina Pienczk-Ręcławowicz5, Ewa Pilarska5
DOI: 10.1016/S0028-3843(14)60135-3
Neurol Neurochir Pol 2010;44(5):453-458.


Background and purpose

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.

Material and 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.


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%).


The study did not show that the C242T polymorphism of the CYBA gene is a risk factor of ischaemic stroke in children.

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Neurologia i Neurochirurgia Polska