C242T polymorphism in CYBA gene (p22phox) and risk of coronary artery disease in a population of Caucasian Italians.
BACKGROUND
specific polymorphisms of genes regulating intracellular redox balance and oxidative stress are related to atherogenesis. Some studies have identified a relationship between progression of atherosclerosis and C242T mutation in CYBA gene coding for p22phox, a subunit of the NADH/NADPH oxidase system.


METHODS
we investigated whether the C242T nucleotide transition is associated with the presence of coronary artery disease (CAD) in a population of 494 Caucasian Italians undergoing coronary angiography to diagnose the cause of chest pain.


RESULTS
the frequency of the T mutant allele that we found in 276 patients with angiographically documented CAD was significantly higher compared to what we observed in 218 subjects with normal coronary arteries (Controls) (respectively: 0.400 and 0.332, p<0.01). The prevalence of the T allele was even stronger when we compared: 1) early onset (age < or =55) vs late onset (age > or =65) single-vessel CAD patients (respectively: 0.75 and 0.48, p<0.05), and 2) the subgroup of CAD patients with at least one > or =98% stenosis in a coronary vessel vs those with no > or =98% stenosis in a coronary vessel (respectively: 0.425 and 0.365, p<0.05).


CONCLUSIONS
these results support the increased risk of developing early CAD and of having rapid progression of coronary stenosis in subjects carrying the C242T nucleotide transition among the Italian population.
Nasti
Sabina
S
Department of Internal Medicine, Cardiology and Laboratory of Cardiovascular Biology, Genova University School of Medicine, Genova, Italy.
Spallarossa
Paolo
P
Altieri
Paola
P
Garibaldi
Silvano
S
Fabbi
Patrizia
P
Polito
Luisa
L
Bacino
Luca
L
Brunelli
Michele
M
Brunelli
Claudio
C
Barsotti
Antonio
A
Ghigliotti
Giorgio
G
D003324:Coronary Artery Disease / Q000235:genetics*; D023921:Coronary Stenosis / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008297:Male; D019255:NADPH Oxidases / Q000235:genetics*; D011110:Polymorphism, Genetic; D044465:White People / Q000235:genetics*
D019255:NADPH Oxidases; C086986:CYBA protein, human