RT Journal Article
T1 Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition.
A1 Cénit, María Carmen
A1 Márquez, Ana
A1 Cordero-Coma, Miguel
A1 Fonollosa, Alejandro
A1 Adán, Alfredo
A1 Martínez-Berriotxoa, Agustín
A1 Llorenç, Victor
A1 Díaz Valle, David
A1 Blanco, Ricardo
A1 Cañal, Joaquín
A1 Díaz-Llopis, Manuel
A1 García Serrano, José Luis
A1 Ramón, Enrique, de
A1 Rio, María José, del
A1 Gorroño-Echebarría, Marina
A1 Martín-Villa, José Manuel
A1 Ortego-Centeno, Norberto
A1 Martín, Javier
K1 IL2
K1 IL21
K1 IL2RA
K1 Polymorphisms
K1 Association study
K1 Genetic susceptibility
K1 Predisposición genética a la enfermedad
K1 Variación genética
K1 Genotipo
K1 Interleucina-2
K1 Subunidad alfa del receptor de interleucina-2
K1 Polymorphism, Genetic
K1 Modelos estadísticos
K1 Polimorfismo de nucleótido simple
K1 Uveítis
AB BACKGROUNDRecently, different genetic variants located within the IL2/IL21 genetic region as well as within both IL2RA and IL2RB loci have been associated to multiple autoimmune disorders. We aimed to investigate for the first time the potential influence of the IL2/IL21, IL2RA and IL2RB most associated polymorphisms with autoimmunity on the endogenous non-anterior uveitis genetic predisposition.METHODSA total of 196 patients with endogenous non-anterior uveitis and 760 healthy controls, all of them from Caucasian population, were included in the current study. The IL2/IL21 (rs2069762, rs6822844 and rs907715), IL2RA (2104286, rs11594656 and rs12722495) and IL2RB (rs743777) genetic variants were genotyped using TaqMan® allelic discrimination assays.RESULTSA statistically significant difference was found for the rs6822844 (IL2/IL21 region) minor allele frequency in the group of uveitis patients compared with controls (P(-value)=0.02, OR=0.64 CI 95%=0.43-0.94) although the significance was lost after multiple testing correction. Furthermore, no evidence of association with uveitis was detected for the analyzed genetic variants of the IL2RA or IL2RB loci.CONCLUSIONOur results indicate that analyzed IL2/IL21, IL2RA and IL2RB polymorphisms do not seem to play a significant role on the non-anterior uveitis genetic predisposition although further studies are needed in order to clear up the influence of these loci on the non-anterior uveitis susceptibility.
PB BioMed Central
YR 2013
FD 2013-05-15
LK http://hdl.handle.net/10668/1946
UL http://hdl.handle.net/10668/1946
LA en
NO Cénit MC, Márquez A, Cordero-Coma M, Fonollosa A, Adán A, Martínez-Berriotxoa A, et al. Evaluation of the IL2/IL21, IL2RA and IL2RB genetic variants influence on the endogenous non-anterior uveitis genetic predisposition. BMC Med. Genet. 2013; 14:52
NO Journal Article;
DS RISalud
RD Apr 28, 2025