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

A. Márquez, R. Solans, J. Hernández-Rodríguez, M.C. Cid, S. Castañeda, M. Ramentol, I.C. Morado, L. Rodriguez-Rodriguez, J. Narváez, C. Gómez-Vaquero, J.A. Miranda-Filloy, V.M. Martínez-Taboada, R. Ríos, B. Sopeña, J. Monfort, M.J. García-Villanueva, A. Martínez-Zapico, B. Marí-Alfonso, J. Sánchez-Martín, A. Unzurrunzaga, E. Raya, E. De Miguel, A. Hidalgo-Conde, R. Blanco, M.Á. González-Gay, J. Martín

CER7084
2014 Vol.32, N°3 ,Suppl.82
PI 0030, PF 0033
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PMID: 24709033 [PubMed]

Received: 04/11/2013
Accepted : 05/12/2013
In Press: 07/04/2014
Published: 16/05/2014

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.