Skip to main content

Thank you for visiting nature.com. You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

  • Brief Communication
  • Published:

No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome

Genes & Immunity volume 6, pages 457–458 (2005)Cite this article

Abstract

One-third of first-degree relatives of patients with primary Sjögren's syndrome (pSS) suffer from other autoimmune diseases, including type I diabetes, systemic lupus erythematosus and autoimmune thyroiditis. Recently, 1858 C/T polymorphism of PTPN22 gene was reported to predispose to these autoimmune diseases. We decided to investigate whether PTPN22 gene polymorphism was also involved in the genetic predisposition to pSS in a case–control study, including 183 patients with pSS and 172 healthy controls. No significant differences in allele (T allele frequency: 7.7% in patients with pSS vs 7.8% in controls, P=0.9) and genotype frequencies of PTPN22 polymorphism were detected between patients with pSS and controls. PTPN 22 gene polymorphism was not associated with a specific pattern of autoantibody secretion either. Thus, 1858 C/T polymorphism of PTPN22 gene is not involved in genetic predisposition to pSS.

This is a preview of subscription content, access via your institution

Access options

Buy this article

  • Purchase on Springer Link
  • Instant access to full article PDF
Buy now

Prices may be subject to local taxes which are calculated during checkout

Similar content being viewed by others

References

  1. Bottini N, Musumeci L, Alonso A et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36: 337–338.

    Article  CAS  Google Scholar 

  2. Kyogoku C, Langefeld CD, Ortmann WA et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75: 504–507.

    Article  CAS  Google Scholar 

  3. Begovich AB, Carlton VE, Honigberg LA et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75: 330–337.

    Article  CAS  Google Scholar 

  4. Orozco G, Sanchez E, Gonzalez-GAy MA et al. Association of a functional single-nucleotide polymorphism of PTPN22, encoding lymphoid protein phosphatase, with rheumatoid arthritis and systemic lupus eryhtematosus. Arthritis Rheum 2005; 52: 219–224.

    Article  CAS  Google Scholar 

  5. Velaga MR, Wilson V, Jennings CE et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004; 89: 5862–5866.

    Article  CAS  Google Scholar 

  6. Mustelin T, Abraham RT, Rudd CE, Alonso A, Merlo JJ . Protein tyrosine phosphorylation in T cell signaling. Front Biosci 2002; 7: d918–d969.

    Article  CAS  Google Scholar 

  7. Reveille JD, Wilson RW, Provost TT, Bias WB, Arnett FC . Primary Sjögren's syndrome and other autoimmune diseases in families. Prevalence and immunogenetic studies in six kindreds. Ann Intern Med 1984; 101: 748–756.

    Article  CAS  Google Scholar 

  8. Begovich AB, Caillier SJ, Alexander HC et al. The R620W polymorphism of the protein tyrosine phosphatase PTPN22 is not associated with multiple sclerosis. Am J Hum Genet. 2005; 76: 184–187.

    Article  CAS  Google Scholar 

  9. Gottenberg JE, Busson M, Loiseau P et al. Association of transforming growth factor beta1 and tumor necrosis factor alpha polymorphisms with anti-SSB/La antibody secretion in patients with primary Sjogren's syndrome. Arthritis Rheum 2004; 50: 570–580.

    Article  CAS  Google Scholar 

  10. Gottenberg JE, Busson M, Loiseau P et al. In primary Sjögren's syndrome, HLA class II is exclusively associated with autoantibody production and spreading of the autoimmune response. Arthritis Rheum 2003; 48: 2240–2245.

    Article  CAS  Google Scholar 

  11. Criswell LA, Pfeiffer KA, Lum RF et al. Analysis of Families in the Multiple Autoimmune Disease Genetics Consortium (MADGC) Collection: the PTPN22 620W Allele Associates with Multiple Autoimmune Phenotypes. Am J Hum Genet 2005; 76: 561–571.

    Article  CAS  Google Scholar 

Download references

Author information

Author notes

  1. M Ittah and J-E Gottenberg: These two authors contributed equally to the study

  2. X Mariette and C Miceli-Richard: These two authors contributed equally to the study

Authors and Affiliations

  1. Service de Rhumatologie, Institut Pour la Santé et la Recherche Médicale (INSERM) E 109, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin Bicêtre, France

    M Ittah, J-E Gottenberg, X Mariette & C Miceli-Richard

  2. Hématologie, Institut Pour la Santé et la Recherche Médicale (INSERM) E 109, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris (AP-HP), Le Kremlin Bicêtre, France

    A Proust

  3. Médecine Interne, Centre Hospitalier Universitaire (CHU) Claude Huriez, Lille, France

    E Hachulla

  4. Rhumatologie, CHU du Mans, Le Mans, France

    X Puechal

  5. INSERM 396, Immunologie et Histocompatibilité, Hôpital Saint-Louis, AP-HP, Paris, France

    P Loiseau

Authors
  1. M Ittah
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. J-E Gottenberg
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. A Proust
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. E Hachulla
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. X Puechal
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. P Loiseau
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. X Mariette
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. C Miceli-Richard
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to X Mariette.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Ittah, M., Gottenberg, JE., Proust, A. et al. No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome. Genes Immun 6, 457–458 (2005). https://doi.org/10.1038/sj.gene.6364229

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1038/sj.gene.6364229

Keywords

This article is cited by

Search

Advanced search

Quick links