Affiliations: Inmunología, Facultad de Medicina, Universidad
Complutense de Madrid, Madrid, Spain | Servicio de Oftalmología, Hospital Universitario
"Príncipe de Asturias", Alcalá de Henares, Madrid, Spain
Note: [] Corresponding author: Prof. J.M. Martín-Villa,
Inmunología, Facultad de Medicina, Pabellón V, planta 4^a,
Universidad Complutense de Madrid, 28040 Madrid, Spain. Tel.: +34 913941642;
Fax: +34 913941641; E-mail: autoinmunidad@med.ucm.es
Abstract: We wished to analyse the frequency of Crohn's disease-linked CARD15
polymorphisms (P268S, R702W, G908R and 1007fs) in a group of Spanish patients
with idiopathic uveitis. To this aim, DNA samples were obtained from 111
unrelated patients. P268S, R702W and G908R polymorphisms were detected using
TaqMan Genotyping kits (Applied Biosystems), and the 1007fs variation by direct
DNA sequencing. Control group consisted of 105 healthy subjects. None of the polymorphisms studied revealed a significant increase in the groups of
patients, when compared to the control group. Thus, P268S is found in 50% of
patients (gene frequency 0.284) vs 44% of control individuals (gene
frequency 0.245); R702W in 7% of patients (0.036) vs 7% (0.033);
G908R in 2% of patients (0.009) vs 4% (0.019) and, finally,
1007 fs in 2% of uveitis patients (0.008) vs 4% (0.021).
Moreover, DNA sequencing has allowed us to define two new intronic
polymorphisms in phase, in the 5' and 3' boundaries of the exon 11 (GenBank
accession number #DQ 869189). Altogether, our results suggest that the
Crohn's disease-linked CARD15 polymorphisms do not seem to predispose to
idiopathic uveitis in the Spanish population.
