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The Interleukin 23 Receptor gene does not confer risk to systemic sclerosis and is not associated with SSc disease phenotype.
  1. B Rueda (blarume{at}ipb.csic.es)
  1. CSIC, Spain
    1. J Broen (j.broen{at}student.ru.nl)
    1. Radboud University Nijmegen Medical Centre, Netherlands
      1. O Torres
      1. CSIC, Spain
        1. C Simeon
        1. Servicio de Medinina Interna, Barcelona, Spain
          1. N Ortega-Centeno
          1. Servicio de Medicina Interna, Hospital Clinico Universitario, Granada, Spain
            1. M MVAP Schrijvenaars
            1. Radboud University Nijmegen Medical Centre, Netherlands
              1. M C Vonk (m.vonk{at}reuma.umcn.nl)
              1. Radboud University Nijmegen Medical Centre, Netherlands
                1. V Fonollosa
                1. Servicio de Medinina Interna, Barcelona, Spain
                  1. F HJ van den Hoogen (f.vandenhoogen{at}maartenskliniek.nl)
                  1. Sint Maartenskliniek, Nijmegen, Netherlands
                    1. M JH Coenen (m.coenen{at}antrg.umcn.nl)
                    1. Radboud University Nijmegen Medical Centre, Netherlands
                      1. J Sanchez-Román
                      1. Servicio de Medicina Interna, Hospital Virgen del Rocio, Sevilla, Spain
                        1. M A Aguirre-Zamorano
                        1. Servicio de Reumatologia, Cordoba, Spain
                          1. R García-Portales
                          1. Servicio Medicina Interna, Hospital Virgen de la Victoria, Malaga, Spain
                            1. A Pros
                            1. Servicio de Reumatologia, Hospital del Mar, Barcelona, Spain
                              1. M T Camps
                              1. Servicio Medicina Interna, Hospital Carlos Haya, Malaga, Spain
                                1. M Gonzalez-Gay
                                1. Servicio de Reumatologia, Hospital Xeral-Calde, Lugo, Spain
                                  1. J Martin (martin{at}ipb.csic.es)
                                  1. Instituto de Biomedicina Lopez-Neyra. CSIC, Spain
                                    1. T RDJ Radstake (tradstake73{at}googlemail.com)
                                    1. University Medical Center Nijmegen, Netherlands

                                      Abstract

                                      Objective: Multiple studies indicate the role of the IL-17/IL-23 axis in autoimmune diseases including systemic sclerosis (SSc). The aim of the current study was to investigate the possible implication of the IL23R gene in SSc susceptibility and/or clinical phenotype.

                                      Methods: An initial case-control study in 143 Dutch SSc patients and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish SSc patients and 515 healthy individuals. Seven single nucleotide polymorphisms (SNPs) spanning the IL23R gene were selected and genotyped using a Taqman assay.

                                      Results: Using a Dutch cohort of SSc patients and controls we observed an association between two (rs11209032, rs1495965) of the seven tested SNPs and disease susceptibility (allelic p values: P=0.02 and P=0.01 respectively). However, a replication study in an independent Spanish cohort did not confirm these findings and reveal no association of any of the IL23R tested SNP with disease susceptibility or clinical phenotype. Similarly, a meta-analysis considering both populations did not reveal any significant association. In addition, no association was observed between IL23R genetic variants and SSc clinical phenotypes.

                                      Conclusions: Our results suggest that the IL23R gene is not associated with SSc susceptibility or clinical phenotype.

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