open access

Vol 44, No 5 (2010)
ARTYKUŁ ORYGINALNY
Submitted: 2010-06-30
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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 Niemiec, Iwona Żak, Ewa Emich-Widera, Anna Balcerzyk, Ilona Kopyta, Tomasz Nowak, Jerzy Wendorff, Katarzyna Pałatyńska, Marek Kaciński, Karolina Pienczk-Ręcławowicz, Ewa Pilarska
DOI: 10.1016/S0028-3843(14)60135-3
·
Neurol Neurochir Pol 2010;44(5):453-458.

open access

Vol 44, No 5 (2010)
ARTYKUŁ ORYGINALNY
Submitted: 2010-06-30

Abstract

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.

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.

Abstract

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.

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.

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Keywords

ischaemic stroke, paediatric stroke, polymorphism, CYBA gene, free radicals, NAD(P)H oxidases

About this article
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

Journal

Neurologia i Neurochirurgia Polska

Issue

Vol 44, No 5 (2010)

Pages

453-458

DOI

10.1016/S0028-3843(14)60135-3

Bibliographic record

Neurol Neurochir Pol 2010;44(5):453-458.

Keywords

ischaemic stroke
paediatric stroke
polymorphism
CYBA gene
free radicals
NAD(P)H oxidases

Authors

Paweł Niemiec
Iwona Żak
Ewa Emich-Widera
Anna Balcerzyk
Ilona Kopyta
Tomasz Nowak
Jerzy Wendorff
Katarzyna Pałatyńska
Marek Kaciński
Karolina Pienczk-Ręcławowicz
Ewa Pilarska

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