A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population.

Abstract

A single-nucleotide polymorphism (C1858T) causing an amino acid substitution (R620W) in the lymphoid protein tyrosine phosphatase gene PTPN22 has been implicated in type 1 diabetes, rheumatoid arthritis, systemic lupus erythematosus, Graves' disease, juvenile idiopathic arthritis and Hashimoto's thyroiditis, thus revealing a general role for this gene in autoimmune disease. We investigated the association of the C1858T variant in an additional autoimmune disease population by performing a case-control study of 514 British individuals with inflammatory bowel disease (IBD) [294 with Crohn's disease (CD) and 220 with ulcerative colitis (UC)] and 374 normal controls. No significant differences in genotype or allele frequencies were observed between IBD, CD or UC and controls, indicating that PTPN22 does not influence risk of IBD.

• Authors: N J Prescott, S A Fisher, C Onnie, R Pattni, S Steer, J Sanderson, A Forbes, C M Lewis, C G Mathew
• Journal: Tissue antigens (Tissue Antigens) Vol. 66 Issue 4 Pg. 318-20 (Oct 2005) ISSN: 0001-2815 [Print] England
• PMID: 16185328 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Protein Tyrosine Phosphatase, Non-Receptor Type 1
• Protein Tyrosine Phosphatase, Non-Receptor Type 22
• Protein Tyrosine Phosphatases

Topics

• Amino Acid Substitution (genetics, immunology)
• Autoimmune Diseases (genetics, immunology)
• Case-Control Studies
• Colitis, Ulcerative (genetics, immunology)
• Crohn Disease (genetics, immunology)
• Genetic Predisposition to Disease (genetics)
• Genotype
• Polymorphism, Single Nucleotide (genetics, immunology)
• Protein Tyrosine Phosphatase, Non-Receptor Type 1
• Protein Tyrosine Phosphatase, Non-Receptor Type 22
• Protein Tyrosine Phosphatases (genetics, immunology)
• Risk Factors
• United Kingdom