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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: Clin Exp Rheumatol. 2014 May-Jun;32(3 Suppl 82):S30-3

Editorial: Clinical and Experimental Rheumatology

 Año de publicación: 2014

Nº de páginas: 4

Tipo de publicación: Artículo de Revista

ISSN: 0392-856X,1593-098X

Proyecto español: RD08/0075/0011 ; SAF 11/30073

Autores/as

MÁRQUEZ, 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.

RIOS, RAQUEL

SOPEÑA, BERNARDO

MONFORT, JORDI

GARCÍA VILLANUEVA, MARÍA JESÚS

MARTÍNEZ ZAPICO, ALEIDA

MARÍ ALFONSO, BEGOÑA

RICARDO BLANCO ALONSO