title: No evidence for association between 1858 C/T single-nucleotide polymorphism of PTPN22 gene and primary Sjögren's syndrome.
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.
authors.affiliation: Service de Rhumatologie, Institut Pour la Santé et la Recherche Médicale E 109, Hôpital de Bicêtre, Assistance Publique-Hôpitaux de Paris, Le Kremlin Bicêtre, France.
authors.forename: M
authors.initials: M
authors.lastname: Ittah
authors.forename: J-E
authors.initials: JE
authors.lastname: Gottenberg
authors.forename: A
authors.initials: A
authors.lastname: Proust
authors.forename: E
authors.initials: E
authors.lastname: Hachulla
authors.forename: X
authors.initials: X
authors.lastname: Puechal
authors.forename: P
authors.initials: P
authors.lastname: Loiseau
authors.forename: X
authors.initials: X
authors.lastname: Mariette
authors.forename: C
authors.initials: C
authors.lastname: Miceli-Richard
mesh_terms: D001323:Autoantibodies / Q000097:blood; D005260:Female; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D012859:Sjogren's Syndrome / Q000097:blood / Q000235:genetics*
chemical_list: D001323:Autoantibodies; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases