Affiliations: Department of Internal Medicine, Cardiology and
Laboratory of Cardiovascular Biology, Genova University School of Medicine,
Genova, Italy
Note: [] Corresponding author: Giorgio Ghigliotti, M.D., Research
Associate of Cardiology, Department of Internal Medicine, Cardiology –
Genova University School of Medicine, Viale Benedetto XV, 6. 16132-Genova
Italy. Tel.: +39 010 3537934; Fax: +39 010 3538638; E-mail:
[email protected]
Abstract: 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 p22^{phox}, a subunit of
the NADH/NADPH oxidase system. Design: 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 <55) vs late onset (age
>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 >98% stenosis in a
coronary vessel vs those with no >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.
