RT Journal Article
T1 Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis.
A1 Cénit, María Carmen
A1 Márquez, Ana
A1 Cordero-Coma, Miguel
A1 Fonollosa, Alejandro
A1 Llorenç, Victor
A1 Artaraz, Joseba
A1 Díaz Valle, David
A1 Blanco, Ricardo
A1 Cañal, Joaquín
A1 Salom, David
A1 García Serrano, José Luis
A1 Ramón, Enrique de
A1 Rio, María José del
A1 Gorroño-Echebarría, Marina Begoña
A1 Martín-Villa, José Manuel
A1 Molins, Blanca
A1 Ortego-Centeno, Norberto
A1 Martín, Javier
K1 Alelos
K1 Demografía
K1 Estudios de casos y controles
K1 Estudios de asociación genética
K1 Frecuencia génica
K1 Predisposición genética a la enfermedad
K1 Proteínas mutantes
K1 Polimorfismo de nucleótido único
K1 Proteína tirosina fosfatasa no receptora de tipo 22
K1 Uveítis anterior
K1 España
AB OBJECTIVEEndogenous uveitis is a major cause of visual loss mediated by the immune system. The protein tyrosine phosphatase non-receptor type 22 (PTPN22) gene encodes a lymphoid-specific phosphatase that plays a key role in T-cell receptor (TCR) signaling. Two independent functional missense single nucleotide polymorphisms (SNPs) located within the PTPN22 gene (R263Q and R620W) have been associated with different autoimmune disorders. We aimed to analyze for the first time the influence of these PTPN22 genetic variants on endogenous non-anterior uveitis susceptibility.METHODSWe performed a case-control study of 217 patients with endogenous non-anterior uveitis and 718 healthy controls from a Spanish population. The PTPN22 polymorphisms (rs33996649 and rs2476601) were genotyped using TaqMan allelic discrimination assays. The allele, genotype, carriers, and allelic combination frequencies were compared between cases and controls with χ(2) analysis or Fisher's exact test.RESULTSOur results showed no influence of the studied SNPs in the global susceptibility analysis (rs33996649: allelic P- value=0.92, odds ratio=0.97, 95% confidence interval=0.54-1.75; rs2476601: allelic P- value=0.86, odds ratio=1.04, 95% confidence interval=0.68-1.59). Similarly, the allelic combination analysis did not provide additional information.CONCLUSIONSOur results suggest that the studied polymorphisms of the PTPN22 gene do not play an important role in the pathophysiology of endogenous non-anterior uveitis.
PB Molecular Vision
YR 2013
FD 2013-03-20
LK http://hdl.handle.net/10668/1590
UL http://hdl.handle.net/10668/1590
LA en
NO Cénit MC, Márquez A, Cordero-Coma M, Fonollosa A, Llorenç V, Artaraz J, et al. Lack of association between the protein tyrosine phosphatase non-receptor type 22 R263Q and R620W functional genetic variants and endogenous non-anterior uveitis Mol Vis. 2013; 19:638-43
NO Journal Article;
DS RISalud
RD Apr 16, 2025