Analysis of Crohn's disease-related CARD15 polymorphisms in Spanish patients with idiopathic uveitis.
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.
Rodríguez-Pérez
N
N
Inmunología, Facultad de Medicina, Universidad Complutense de Madrid, Madrid, Spain.
Aguinaga-Barrilero
A
A
Gorroño-Echebarría
Marina B
MB
Pérez-Blas
Mercedes
M
Martín-Villa
J M
JM
D000293:Adolescent; D000328:Adult; D000368:Aged; D003424:Crohn Disease / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D053473:Nod2 Signaling Adaptor Protein / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014605:Uveitis / Q000209:etiology / Q000235:genetics*
C429018:NOD2 protein, human; D053473:Nod2 Signaling Adaptor Protein