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 Detalle_Publicacion

Analysis of two autoimmunity genes, IRAK1 and MECP2, in giant cell arteritis.

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.

Otras publicaciones de la misma revista o congreso con autores/as de la Universidad de Cantabria

 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

Autoría

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.

RÍOS, RAQUEL

SOPEÑA, BERNARDO

MONFORT, JORDI

GARCÍA-VILLANUEVA, MARÍA JESÚS

MARTÍNEZ-ZAPICO, ALEIDA

MARÍ-ALFONSO, BEGOÑA

SÁNCHEZ-MARTÍN, JULIO

UNZURRUNZAGA, AINHOA