Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases
pmid: 15759012
Association analysis of the 1858C>T polymorphism in the PTPN22 gene in juvenile idiopathic arthritis and other autoimmune diseases
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.
- University of Oslo Norway
- Diakonhjemmet Hospital Norway
Polymorphism, Genetic, Arthritis, Cholangitis, Sclerosing, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Autoimmune Diseases, Celiac Disease, Humans, Lupus Erythematosus, Systemic, Point Mutation, Genetic Predisposition to Disease, Protein Tyrosine Phosphatases
Polymorphism, Genetic, Arthritis, Cholangitis, Sclerosing, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Autoimmune Diseases, Celiac Disease, Humans, Lupus Erythematosus, Systemic, Point Mutation, Genetic Predisposition to Disease, Protein Tyrosine Phosphatases
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