title: 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.affiliation: Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, GKT School of Medicine, King's College London, London, UK. natalie.prescott@genetics.kcl.ac.uk
authors.forename: N J
authors.initials: NJ
authors.lastname: Prescott
authors.forename: S A
authors.initials: SA
authors.lastname: Fisher
authors.forename: C
authors.initials: C
authors.lastname: Onnie
authors.forename: R
authors.initials: R
authors.lastname: Pattni
authors.forename: S
authors.initials: S
authors.lastname: Steer
authors.forename: J
authors.initials: J
authors.lastname: Sanderson
authors.forename: A
authors.initials: A
authors.lastname: Forbes
authors.forename: C M
authors.initials: CM
authors.lastname: Lewis
authors.forename: C G
authors.initials: CG
authors.lastname: Mathew
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics* / Q000276:immunology; D001327:Autoimmune Diseases / Q000235:genetics / Q000276:immunology; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000235:genetics* / Q000276:immunology; D003424:Crohn Disease / Q000235:genetics* / Q000276:immunology; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005838:Genotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000276:immunology; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics* / Q000276:immunology; D012307:Risk Factors; D006113:United Kingdom
chemical_list: D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases