Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: Further support that PTPN22 is an autoimmunity gene

Anne Hinks, Anne Barton, Sally John, Ian Bruce, Clive Hawkins, Christopher E M Griffiths, Rachelle Donn, Wendy Thomson, Alan Silman, Jane Worthington

Research output: Contribution to journalArticlepeer-review

Abstract

Objective. The protein tyrosine phosphatase N22 (PTPN22) gene exhibits regulatory activities for both T cells and B cells. A missense single-nucleotide polymorphism (SNP) within this gene (rs2476601) has recently been associated with 4 autoimmune diseases: rheumatoid arthritis (RA), systemic lupus erythematosus, autoimmune thyroid disease, and type 1 diabetes mellitus, all of which are T cell-mediated and associated with the elaboration of autoantibody. The aim of this study was to investigate associations of the missense SNP of PTPN22 in a number of autoimmune diseases in the UK population, including RA, juvenile idiopathic arthritis (JIA), psoriasis, psoriatic arthritis (PsA), and multiple sclerosis (MS), some of which have not been examined previously. Methods. The PTPN22 missense SNP was genotyped in 886 RA, 661 JIA, 279 psoriasis, 455 PsA, and 379 MS patients and in 595 healthy controls. Association with the PTPN22 SNP was analyzed by chi-square test as implemented in Stata software. Results. There was a significant association between the PTPN22 SNP and RA (P = 1.8 × 10-8 and JIA (P = 0.0005). In contrast, no association with psoriasis, PsA, or MS was detected. Conclusion. We replicated the findings of a previous association with RA and identified a novel association with JIA. Together with previous data showing associations with other autoimmune diseases, our Findings provide further evidence that the PTPN22 gene plays a role in the pathogenesis of a subgroup of autoimmune diseases. © 2005 American College of Rheumatology.
Original languageEnglish
Pages (from-to)1694-1699
Number of pages5
JournalArthritis Care & Research
Volume52
Issue number6
DOIs
Publication statusPublished - Jun 2005

Keywords

  • Adult
  • genetics: Arthritis, Juvenile Rheumatoid
  • genetics: Arthritis, Psoriatic
  • genetics: Arthritis, Rheumatoid
  • genetics: Autoimmune Diseases
  • genetics: Autoimmunity
  • Case-Control Studies
  • Cohort Studies
  • Female
  • Gene Frequency
  • Genotype
  • Great Britain
  • Humans
  • Male
  • Middle Aged
  • genetics: Multiple Sclerosis
  • Mutation, Missense
  • Polymorphism, Single Nucleotide
  • genetics: Protein-Tyrosine-Phosphatase
  • genetics: Psoriasis
  • Research Support, Non-U.S. Gov't

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