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Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases

Genes & Immunity volume 6, pages 271–273 (2005)Cite this article

Abstract

A functional single nucleotide polymorphism, 1858C>T, in the PTPN22 gene, encoding a tyrosine phosphatase, has been reported to be associated with type I diabetes and some other autoimmune diseases. To further investigate whether this polymorphism may be a general susceptibility factor for autoimmunity, we performed an association study in five different autoimmune diseases, three previously not tested. We found an association with juvenile idiopathic arthritis (OR=1.41; P=0.04), not previously reported, and a tendency for an association with coeliac disease (OR=1.35; P=0.08). In primary sclerosing cholangitis, no association was observed (OR=0.95; P=0.8). Furthermore, we confirmed the increased risk in rheumatoid arthritis (OR=1.58; P=0.001), but could not find support for an association with systemic lupus erythematosus (OR=0.94; P=0.8). Altogether, we have provided further evidence of an association between autoimmune diseases and the 1858C>T polymorphism in PTPN22.

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Acknowledgements

We thank Audur H Gudjónsdóttir, Johan Ek and Henry Ascher for collecting the CD data set, and also the Norwegian Bone Marrow Registry for the control material. We also thank Hege Dahlen for making the whole genome amplified DNA. This work was supported by grants from the Research Council of Norway, the Norwegian Diabetes Foundation, The Novo Nordisk Foundation, and Medinnova.

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Authors and Affiliations

  1. Institute of Immunology, Rikshospitalet University Hospital and University of Oslo, Rikshospitalet, Norway

    M K Viken, S S Amundsen, L M Sollid, E Thorsby, A Smerdel & B A Lie

  2. Department of Rheumatology, Diakonhjemmet Hospital, Norway

    T K Kvien

  3. Medical Department, Rikshospitalet University Hospital, Norway

    K M Boberg

  4. Department of Rheumatology, Rikshospitalet University Hospital, Norway

    I M Gilboe, V Lilleby & Ø T Førre

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  1. M K Viken
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  2. S S Amundsen
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  11. B A Lie
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Correspondence to M K Viken.

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Viken, M., Amundsen, S., Kvien, T. et al. Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases. Genes Immun 6, 271–273 (2005). https://doi.org/10.1038/sj.gene.6364178

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  • DOI: https://doi.org/10.1038/sj.gene.6364178

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