1. ¹Institute of Immunology, Rikshospitalet University Hospital and University of Oslo, Rikshospitalet, Norway
2. ²Department of Rheumatology, Diakonhjemmet Hospital, Norway
3. ³Medical Department, Rikshospitalet University Hospital, Norway
4. ⁴Department of Rheumatology, Rikshospitalet University Hospital, Norway

Correspondence: MK Viken, Institute of Immunology, Rikshospitalet University Hospital, University of Oslo, 0027 Oslo, Norway. E-mail: m.k.viken@medisin.uio.no

Received 16 December 2004; Revised 11 January 2005; Accepted 13 January 2005; Published online 10 March 2005.

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.