Brief Communication

Genes and Immunity (2005) 6, 457–458. doi:10.1038/sj.gene.6364229; published online 3 June 2005

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

M Ittah1,6, J-E Gottenberg1,6, A Proust2, E Hachulla3, X Puechal4, P Loiseau5, X Mariette1,7 and C Miceli-Richard1,7

  1. 1Service 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
  2. 2Hématologie, 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
  3. 3Médecine Interne, Centre Hospitalier Universitaire (CHU) Claude Huriez, Lille, France
  4. 4Rhumatologie, CHU du Mans, Le Mans, France
  5. 5INSERM 396, Immunologie et Histocompatibilité, Hôpital Saint-Louis, AP-HP, Paris, France

Correspondence: Dr X Mariette, Service de Rhumatologie, Institut Pour la Santé et la Recherche Médicale (INSERM) E 109, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris (AP-HP), 78 rue du Général Leclerc, Le Kremlin Bicêtre 94275, France. E-mail: xavier.mariette@bct.ap-hop-paris.fr

6These two authors contributed equally to the study

7These two authors contributed equally to the study

Received 10 February 2005; Revised 11 April 2005; Accepted 12 April 2005; Published online 3 June 2005.

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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.

Keywords:

PTPN22, Sjögren's syndrome, genetic polymorphism, anti-SSA/SSB

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