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The interleukin 23 receptor gene does not confer risk to systemic sclerosis and is not associated with systemic sclerosis disease phenotype
  1. B Rueda1,
  2. J Broen2,
  3. O Torres1,
  4. C Simeon3,
  5. N Ortego-Centeno4,
  6. M M V A P Schrijvenaars5,
  7. M C Vonk2,
  8. V Fonollosa3,
  9. F H J van den Hoogen6,
  10. M J H Coenen5,
  11. J Sanchez-Román7,
  12. M A Aguirre-Zamorano8,
  13. R García-Portales9,
  14. A Pros10,
  15. M T Camps11,
  16. M A Gonzalez-Gay12,
  17. J Martin1,
  18. T R D J Radstake2,13
  1. 1
    Instituto de Parasitologia y Biomedicina Lopez-Neyra, CSIC, Granada, Spain
  2. 2
    Department of Rheumatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
  3. 3
    Servicio de Medinina Interna, Hospital Vall de Ebron, Barcelona, Spain
  4. 4
    Servicio de Medicina Interna, Hospital Clinico Universitario, Granada, Spain
  5. 5
    Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
  6. 6
    Sint Maartenskliniek Nijmegen, Nijmegen, The Netherlands
  7. 7
    Servicio de Medicina Interna. Hospital Virgen del Rocio, Seville, Spain
  8. 8
    Servicio de Reumatología. Hospital Reina Sofía, Cordoba, Spain
  9. 9
    Servicio Medicina Interna. Hospital Virgen de la Victoria, Malaga, Spain
  10. 10
    Servicio de Reumatología, Hospital del Mar, Barcelona, Spain
  11. 11
    Servicio de Medicina Interna, Hospital Carlos Haya, Malaga, Spain
  12. 12
    Servicio de Reumatología, Hospital Xeral-Calde, Lugo, Spain
  13. 13
    The Arthritis Center, Boston Medical Center, Boston, Massachusetts, USA
  1. T R D J Radstake, Department of Rheumatology, Radboud University Nijmegen Medical Center, Geert Grooteplein 8, 6500 HB Nijmegen, The Netherlands; T.Radstake{at}


Objectives: Multiple studies indicate the role of the interleukin (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 patients with SSc and geographically matched healthy individuals (n = 246) was carried out and followed by a replication study in a cohort of 365 Spanish patients with SSc 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 patients with SSc 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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  • Competing interests: None.

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