The C242T polymorphism of the NAD(P)H oxidase p22phox subunit is associated with an enhanced risk for cerebrovascular disease at a young age.

Abstract

BACKGROUND AND PURPOSE:

Oxidative stress has been proposed as a major contributing factor for vascular disease, that acts independently from its participation in predisposing disorders such as diabetes and arterial hypertension. A functionally relevant C242T polymorphism of the CYBA gene encoding the NAD(P)H oxidase p22(phox) subunit, is supposed to lead to an abnormal reduction in the generation of reactive oxygen species in vascular smooth-muscle and endothelial cells.

METHODS:

We investigated the p22(phox) C242T single-nucleotide polymorphism by polymerase chain reaction in consecutive patients with ischemic stroke or transient ischemic attack under the age of 50 (n = 161) and in population-based control subjects (n = 136).

RESULTS:

Homozygosity for the T variant was associated with an enhanced risk for cerebral ischemia (odds ratio 3.85, confidence interval 1.39-10.64) after adjusting for classical risk factors. Risk for cerebral ischemia was not increased in heterozygous subjects.

CONCLUSION:

The p22(phox) C242T single-nucleotide polymorphism is associated with stroke risk. This finding supports the hypothesis that oxidative stress may contribute to stroke pathogenesis.

• Authors: Just Genius, Armin J Grau, Christoph Lichy
• Journal: Cerebrovascular diseases (Basel, Switzerland) (Cerebrovasc Dis) Vol. 26 Issue 4 Pg. 430-3 ( 2008) ISSN: 1421-9786 [Electronic] Switzerland
• PMID: 18799874 (Publication Type: Journal Article)
• Copyright: Copyright 2008 S. Karger AG, Basel.

Chemical References

• NADPH Oxidases
• CYBA protein, human

Topics

• Adult
• Age Distribution
• Age of Onset
• Female
• Gene Frequency
• Genetic Predisposition to Disease (epidemiology)
• Genotype
• Humans
• Intracranial Arteriosclerosis (epidemiology, genetics)
• Male
• Middle Aged
• NADPH Oxidases (genetics)
• Oxidative Stress (genetics)
• Polymorphism, Single Nucleotide
• Risk Factors
• Stroke (epidemiology, genetics)