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Lack of association between the protein tyrosine phosphatase non-receptor 22 (PTPN22)*620W allele and systemic sclerosis in the French Caucasian population
  1. J Wipff1,
  2. Y Allanore2,
  3. A Kahan1,
  4. O Meyer3,
  5. L Mouthon4,
  6. L Guillevin4,
  7. C Pierlot5,
  8. E Glikmans5,
  9. T Bardin6,
  10. C Boileau2,
  11. F Cornélis5,
  12. P Dieudé5
  1. 1Rheumatology A Department, Paris 5 Descartes University, Cochin Hospital, Paris, France
  2. 2INSERM U781, Paris S Descartes University, Necker Hospital, Paris
  3. 3Rheumatology Department, Paris 12 University, Bichat Hospital, Paris
  4. 4Internal Medicine Department, Paris 5 Descartes University, Cochin Hospital, Paris
  5. 5GenHotel-EA3886, Evry-Genopole, University Evry-Paris 7 Medical School, Paris
  6. 6Fédération de Rheumatologie—Centre Viggo Petersen, Lariboisiere Hospital, AP-HP, Paris
  1. Correspondence to:
    Y Allanore
    Service de Rhumatologie A, hôpital Cochin, 27 rue du faubourg St Jacques, 75014 Paris, France;yannick.allanore{at}


The minor allele of the R620W missense single-nucleotide polymorphism (SNP; rs2476601) in the PTPN22 (protein tyrosine phosphatase non-receptor 22) gene has been reported to be associated with multiple autoimmune diseases, including type 1 diabetes, systemic lupus erythematosus, rheumatoid arthritis, juvenile idiopathic arthritis, autoimmune thyroiditis and vitiligo. Systemic sclerosis (SSc) is a connective tissue disease with some autoimmune abnormalities. The aim of our study was to test for association of the PTPN22*620W allele with SSc in a French Caucasian cohort with a case–control study of 121 patients with SSc and 103 controls. All patients and controls were genotyped for the PTPN22*R620W SNP. No association was found between the PTPN22*620W allele and SSc (7% v 9.2%, p = 0.39). The frequency of genotypes carrying at least one 620W allele was similar in both groups (13% v 17%, p =  0.38). The PTPN22*620W allele was also not associated with autoantibody patterns. Thus, the PTPN22*R620W polymorphism cannot be regarded as a genetic susceptibility factor for SSc in the French Caucasian population.

  • Csk, intracellular tyrosine kinase
  • PTPN22, protein tyrosine phosphatase non-receptor 22 gene
  • SNP, single-nucleotide polymorphism
  • SSc, systemic sclerosis

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  • Published Online First 7 February 2006

  • Funding: This study was supported by Association des Sclérodermiques de France, Association Française des Polyarthritiques, Association Rhumatisme et Travail, Association Polyarctique.

  • Competing interests: None declared.

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