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Abstract: Objectives: 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. Conclusions: 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.
Fuente: Clinical and Experimental Rheumatology, 2014, 32(3, Suppl 82), S30-S33
Editorial: Clinical and Experimental Rheumatology
Año de publicación: 2014
Tipo de publicación: Artículo de Revista
ISSN: 0392-856X,1593-098X
Proyecto español: PI06-0024
MARQUEZ, ANA
SOLANS, ROSER
HERNÁNDEZ-RODRÍGUEZ, JOSÉ
CID, MARÍA C.
CASTAÑEDA, SANTOS
RAMENTOL, MARC
MORADO, INMACULADA C.
RODRÍGUEZ RODRÍGUEZ, LUIS
NARVÁEZ, JAVIER
GÓMEZ-VAQUERO, CARMEN
MIRANDA-FILLOY, JOSÉ A.
VICTOR MANUEL MARTINEZ TABOADA
RÍOS, RAQUEL
SOPEÑA, BERNARDO
MONFORT, JORDI
GARCÍA-VILLANUEVA, MARÍA JESÚS
MARTÍNEZ-ZAPICO, ALEIDA
MARÍ-ALFONSO, BEGOÑA
SÁNCHEZ-MARTÍN, JULIO
UNZURRUNZAGA, AINHOA
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