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The IL23R Arg381Gln non-synonymous polymorphism confers susceptibility to ankylosing spondylitis
  1. Blanca Rueda (blarume{at}ipb.csic.es)
  1. CSIC, Granada, Spain
    1. Gisela Orozco (gisela{at}ipb.csic.es)
    1. CSIC, Granada, Spain
      1. Enrique Raya (enriraya{at}terra.es)
      1. Servicio Reumatología, Hospital Clínico Universitario San Cecilio, Granada, Spain
        1. Jose L Fernandez-Sueiro
        1. Servicio de Reumatología, Complejo Hospitalario Universiario Juan Canalejo, A Coruña, Spain
          1. Juan Mulero
          1. Servicio de Reumatologia, Hospital Puerta de Hierro, Madrid, Spain
            1. Francisco J Blanco
            1. Servicio de Reumatología, Complejo Hospitalario Universiario Juan Canalejo, A Coruña, Spain
              1. Carlos Vilches
              1. Servicio de Inmunologia, Hospital Puerta de Hierro, Madrid, Spain
                1. Miguel A González-Gay (miguelaggay{at}hotmail.com)
                1. Hospital Xeral-Calde, Lugo, Spain
                  1. Javier Martin (martin{at}ipb.csic.es)
                  1. CSIC, Granada, Spain

                    Abstract

                    Objectives: Recent results have shown that the IL23R gene, coding for a subunit of the IL-23 receptor, is strongly associated with autoimmunity. The aim of the current study was to investigate, for the first time, the possible involvement of the IL23R gene in genetic susceptibility to ankylosing spondylitis (AS).

                    Methods: We carried out a case-control association study in which 365 AS and 500 blood bank donors were included. Eight single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected as genetic markers for our association study and were genotyped using a Taqman 5' allelic discrimination assay.

                    Results: Interestingly, we observed association of two of eight IL23R genotyped SNPs. The strongest effect was conferred by the non-synonymous rs11209026 (Arg381Gln) SNP (OR 0.46 95 % CI 0.2-0.7 P=0.001). Similarly, the IL23R rs1343151 SNP showed association with AS genetic susceptibility (OR 0.68 95 % CI 0.55-0.83 P= 0.0002). After a conditional case-control test we observed that the effect of these two genetic variants was independent of linkage disequilibrium.

                    Conclusions: These results suggest that the IL23R gene seems to be involved in AS genetic predisposition.

                    • <it>IL23R</it>
                    • ankylosing spondylitis
                    • polymorphisms
                    • susceptibility

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