MYO9B gene polymorphisms are associated with autoimmune diseases in Spanish population Elena Sánchez a , Behrooz Z. Alizadeh b , Gustavo Valdigem b , Norberto Ortego-Centeno c , Juan Jiménez-Alonso d , Enrique de Ramón e , Antonio García f , Miguel A. López-Nevot g , Cisca Wijmenga b , Javier Martín a, *, Bobby P.C. Koeleman b, * a Instituto de Parasitología y Biomedicina “López-Neyra” (CSIC), Granada, Spain b Department of Biomedical Genetics, University Medical Centre, Utrecht, The Netherlands c Servicio de Medicina Interna., Hospital Clínico San Cecilio, Granada, Spain d Servicio de Medicina Interna, Hospital Virgen de las Nieves, Granada, Spain e Servicio de Medicina Interna, Hospital Carlos-Haya, Málaga, Spain f Servicio de Reumatologia, Hospital Virgen de las Nieves, Granada, Spain g Servicio Inmunología, Hospital Virgen de las Nieves, Granada, Spain Received 14 December 2006; received in revised form 23 February 2007; accepted 12 March 2007 Summary The aim of the study was to test MYO9B gene polymorphisms for association with three autoimmune diseases, systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), and celiac disease (CD), in a Spanish population. We analyzed three SNPs (rs2305767, rs1457092, and rs2305764) in a case– control cohort composed of 349 SLE patients, 356 RA patients, 90 CD patients, and 345 healthy controls. All three SNPs showed a consistent increased frequency of the A allele in SLE, RA, and CD patients compared with healthy controls. An association was observed between CD and rs2305764 (p = 0.01, OR = 2.3), between SLE and rs1457092 (p = 0.002, OR = 1.4), and between RA and rs1457092 (p = 0.02, OR = 1.3). The three autoimmune diseases combined showed significant association with rs1457092 and rs2305764 and with the AAA haplotype (p haplotype = 0.005, OR = 1.3). Our data demonstrate consistent association with the A allele and AAA haplotype of three SNPs in the MYO9B gene, which were previously reported to be associated with CD in the Dutch population. This suggests that genetic variation in MYO9B is associated with CD, SLE, and RA and that MYO9B is a general risk factor for autoimmunity. © 2007 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. KEYWORDS Myosin IXB; Systemic lupus erythematosus; Rheumatoid arthritis; Celiac disease; Autoimmune disease; Polymorphism Dr. B.P.C. Koeleman and Dr. J. Martin share senior authorship of the article. * Corresponding authors. Fax: +003 130 253 8204. E-mail address: b.p.c.koeleman@med.uu.nl (B.P.C. Koeleman); martin@ipb.csic.es (J. Martin). Human Immunology (2007) 68, 610 – 615 0198-8859/$ -see front matter © 2007 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved. doi:10.1016/j.humimm.2007.03.006