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Testing for linkage and association with rheumatoid arthritis a ptpn22 promoter polymorphism reported to be associated and linked with type 1 diabetes in the Caucasian population
  1. P Dieudé1,
  2. V H Teixeira2,3,
  3. C Pierlot2,
  4. F Cornélis2,
  5. E Petit-Teixeira2,
  6. for ECRAF*
  1. 1
    Department of Rheumatology, Medical School, Paris Diderot University, Bichat Claude-Bernard Hospital, APHP, Paris, France
  2. 2
    GenHotel-EA3886, Evry Val d’Essonne University and Paris Diderot University, Evry-Genopole, France
  3. 3
    Faculty of Medicine, University of Coimbra, Coimbra, Portugal
  1. Dieudé Philippe, Service de Rhumatologie Hôpital Bichat Claude-Bernard, 46 rue Henri Huchard 75018, Paris, France; philippe.dieude{at}

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The PTPN22 single nucleotide polymorphism (SNP) +1858 C/T (rs2476601) was found to be linked and associated with rheumatoid arthritis (RA).1 However, the frequency of the susceptibility +1858T allele range from 2% to 15% of south to north Europeans, and is not observed in an Asian population, suggesting the involvement of other disease-associated PTPN22 polymorphisms.24 A study performed in the type 1 diabetes (T1D) Japanese population led to the identification of the PTPN221123 G/C SNP (rs2488457), for which the –1123G allele was found to be associated with T1D.5 This allele in linkage disequilibrium with +1858T was also tested in a familial T1D UK Caucasian sample. The transmission disequilibrium test (TDT) showed a significant excess of transmission of the –1123G allele compared with that …

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  • *ECRAF, the European consortium on Rheumatoid Arthritis Families, was initiated with funding from the European Commission (BIOMED2) by: T Bardin, D Charron, F Cornélis (coordinator), S Fauré, D Kuntz, M Martinez, J F Prudhomme, J Weissenbach (France); R Westhovens, J Dequeker (Belgium); A Balsa, D Pascuale-Salcedo (Spain); M Spyropoulou, C Stavropoulos (Greece); P Migliorini, S Bombardieri (Italy); P Barrera, L Van de Putte (The Netherlands); and H Alves, A Lopes-Vaz (Portugal).

  • Funding: This work was supported by Association Française des Polyarthritiques, Société Française de Rhumatologie, Association Rhumatisme et Travail, Association Polyarctique, Groupe Taitbout, Académie de Médecine, Association de Recherche sur la Polyarthrite, Genopole, Conseil Régional Ile de France, Fondation pour la Recherche Médicale, Université Evry-Val d’Essonne and unrestricted institutional support from Wyeth, Schering-Plough, Pfizer and Amgen. VHT’s work was supported by Foundation for Science and Technology, Portugal (grant SFRH/BD/23304/2005).

  • Competing interests: None.