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. José 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: Uveitis is a clinical feature of the Blau syndrome, a disease linked
to CARD15 (also referred to as NOD2) mutations. Three main mutations in this
gene (R334W, R334Q and L469F) have been reported as Blau syndrome risk factors,
a disease that manifests uveitis as one of its clinical features. However,
little is known on the involvement of this gene in idiopathic uveitis. We thus
sought to determine the frequency of these Blau-related CARD15 mutations in a
cohort of Spanish patients with idiopathic uveitis. To this aim, 110 patients
with idiopathic uveitis, followed at the Department of Ophtalmology of a
tertiary hospital (Hospital Universitario Alcalá de Henares, Madrid. Spain)
were enrolled. As a control population, 104 healthy subjects were used. DNA was
extracted from blood samples and the Blau-related CARD15 mutations were
analysed either by PCR-RFLP or direct DNA sequencing. None of the mutations
studied was found in any of the individuals tested, whether diseased or
healthy. It seems thus that Blau syndrome-related CARD15 mutations are not
involved in idiopathic uveitis, a finding which allows us to suggest that the
genetic aetiology of the idiopathic uveitis or the Blau-associated uveitis is
different.
