title: Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases.
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.
authors.affiliation: Institute of Immunology, Rikshospitalet University Hospital and University of Oslo, Rikshospitalet, Norway. m.k.viken@medisin.uio.no
authors.forename: M K
authors.initials: MK
authors.lastname: Viken
authors.forename: S S
authors.initials: SS
authors.lastname: Amundsen
authors.forename: T K
authors.initials: TK
authors.lastname: Kvien
authors.forename: K M
authors.initials: KM
authors.lastname: Boberg
authors.forename: I M
authors.initials: IM
authors.lastname: Gilboe
authors.forename: V
authors.initials: V
authors.lastname: Lilleby
authors.forename: L M
authors.initials: LM
authors.lastname: Sollid
authors.forename: O T
authors.initials: OT
authors.lastname: Førre
authors.forename: E
authors.initials: E
authors.lastname: Thorsby
authors.forename: A
authors.initials: A
authors.lastname: Smerdel
authors.forename: B A
authors.initials: BA
authors.lastname: Lie
mesh_terms: D001168:Arthritis / Q000235:genetics*; D001327:Autoimmune Diseases / Q000235:genetics*; D002446:Celiac Disease / Q000235:genetics; D015209:Cholangitis, Sclerosing / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D017354:Point Mutation; D011110:Polymorphism, Genetic; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases