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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}bch.aphp.fr

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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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