TY - JOUR
T1 - Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis
AU - Márquez, Ana
AU - Solans, Roser
AU - Hernández-Rodríguez, José
AU - Cid, María C.
AU - Castañeda, Santos
AU - Ramentol, Marc
AU - Morado, Inmaculada C.
AU - Rodríguez-Rodríguez, Luis
AU - Narváez, Javier
AU - Gómez-Vaquero, Carmen
AU - Miranda-Filloy, José A.
AU - Martínez-Taboada, Víctor M.
AU - Rios, Raquel
AU - Sopeña, Bernardo
AU - Monfort, Jordi
AU - García-Villanueva, María Jesús
AU - Martínez-Zapico, Aleida
AU - Marí-Alfonso, Begoña
AU - Sánchez-Martín, Julio
AU - Unzurrunzaga, Ainhoa
AU - Raya, Enrique
AU - de Miguel, Eugenio
AU - Hidalgo-Conde, Ana
AU - Blanco, Ricardo
AU - González-Gay, Miguel Ángel
AU - Martín, Javier
PY - 2014/1/1
Y1 - 2014/1/1
N2 - Objective. The Xq28 region, containing IRAK and MECP2, represent a common susceptibility locus for a high number of autoimmune diseases. Our aim in the present study was to evaluate the influence of the IRAK1 and MECP2 autoimmunity-associated genetic variants in the giant cell arteritis (GCA) susceptibility and its clinical subphenotypes. Methods. We analysed a total of 627 female biopsy-proven GCA patients and 1,520 female healthy controls of Spanish Caucasian origin. Two polymorphisms, rs1059702 and rs17345, located at IRAK1 and MECP2, respectively, were genotyped using TaqMan® allelic discrimination assays. Results. No association with any of the analysed polymorphisms was evident when genotype and allele frequencies were compared between GCA patients and controls (rs1059702: allelic p-value=0.699, OR=0.96, CI 95% 0.80-1.17; rs17435: allelic p-value=0.994, OR=1.00, CI 95% 0.84-1.19). Likewise, the subphenotype analysis yield similar negative results. Conclusion. We have assessed for the first time the possible role of IRAK1 and MECP2 autoimmune disease-associated polymorphisms in GCA. Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity. © Clinic Cal and Expe Erime Ental Rrhe Eumatology 2014.
AB - Objective. The Xq28 region, containing IRAK and MECP2, represent a common susceptibility locus for a high number of autoimmune diseases. Our aim in the present study was to evaluate the influence of the IRAK1 and MECP2 autoimmunity-associated genetic variants in the giant cell arteritis (GCA) susceptibility and its clinical subphenotypes. Methods. We analysed a total of 627 female biopsy-proven GCA patients and 1,520 female healthy controls of Spanish Caucasian origin. Two polymorphisms, rs1059702 and rs17345, located at IRAK1 and MECP2, respectively, were genotyped using TaqMan® allelic discrimination assays. Results. No association with any of the analysed polymorphisms was evident when genotype and allele frequencies were compared between GCA patients and controls (rs1059702: allelic p-value=0.699, OR=0.96, CI 95% 0.80-1.17; rs17435: allelic p-value=0.994, OR=1.00, CI 95% 0.84-1.19). Likewise, the subphenotype analysis yield similar negative results. Conclusion. We have assessed for the first time the possible role of IRAK1 and MECP2 autoimmune disease-associated polymorphisms in GCA. Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity. © Clinic Cal and Expe Erime Ental Rrhe Eumatology 2014.
KW - GCA
KW - IRAK1
KW - MECP2
KW - SNP
KW - Temporal arteritis
M3 - Article
SN - 0392-856X
VL - 32
JO - Clinical and Experimental Rheumatology
JF - Clinical and Experimental Rheumatology
IS - SUPPL.82
ER -