title: Association between the PTPN22 gene and rheumatoid arthritis and juvenile idiopathic arthritis in a UK population: further support that PTPN22 is an autoimmunity gene.
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 x 10(-8)) and JIA (P = 0.0005). In contrast, no association with psoriasis, PsA, or MS was detected.
  
  
  CONCLUSIONS
  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.
authors.affiliation: University of Manchester, Manchester, UK. Anne@fs1.ser.man.ac.uk
authors.forename: Anne
authors.initials: A
authors.lastname: Hinks
authors.forename: Anne
authors.initials: A
authors.lastname: Barton
authors.forename: Sally
authors.initials: S
authors.lastname: John
authors.forename: Ian
authors.initials: I
authors.lastname: Bruce
authors.forename: Clive
authors.initials: C
authors.lastname: Hawkins
authors.forename: Christopher E M
authors.initials: CE
authors.lastname: Griffiths
authors.forename: Rachelle
authors.initials: R
authors.lastname: Donn
authors.forename: Wendy
authors.initials: W
authors.lastname: Thomson
authors.forename: Alan
authors.initials: A
authors.lastname: Silman
authors.forename: Jane
authors.initials: J
authors.lastname: Worthington
mesh_terms: D000328:Adult; D001171:Arthritis, Juvenile / Q000235:genetics; D015535:Arthritis, Psoriatic / Q000235:genetics; D001172:Arthritis, Rheumatoid / Q000235:genetics*; D001327:Autoimmune Diseases / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics; D016022:Case-Control Studies; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008875:Middle Aged; D009103:Multiple Sclerosis / Q000235:genetics; D020125:Mutation, Missense; D020641:Polymorphism, Single Nucleotide; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D011565:Psoriasis / Q000235:genetics; D006113:United Kingdom
chemical_list: C516765:PTPN22 protein, human; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases