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

Ana Márquez, Roser Solans, José Hernández-Rodríguez, María C. Cid, Santos Castañeda, Marc Ramentol, Inmaculada C. Morado, Luis Rodríguez-Rodríguez, Javier Narváez, Carmen Gómez-Vaquero, José A. Miranda-Filloy, Víctor M. Martínez-Taboada, Raquel Rios, Bernardo Sopeña, Jordi Monfort, María Jesús García-Villanueva, Aleida Martínez-Zapico, Begoña Marí-Alfonso, Julio Sánchez-Martín, Ainhoa UnzurrunzagaEnrique Raya, Eugenio de Miguel, Ana Hidalgo-Conde, Ricardo Blanco, Miguel Ángel González-Gay, Javier Martín

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5 Citations (Scopus)


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.
Original languageEnglish
JournalClinical and Experimental Rheumatology
Issue numberSUPPL.82
Publication statusPublished - 1 Jan 2014


  • GCA
  • IRAK1
  • MECP2
  • SNP
  • Temporal arteritis


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