A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population.
Prescott, NJ;
Fisher, SA;
Onnie, C;
Pattni, R;
Steer, S;
Sanderson, J;
Forbes, A;
Lewis, CM;
Mathew, CG;
(2005)
A general autoimmunity gene (PTPN22) is not associated with inflammatory bowel disease in a British population.
Tissue Antigens, 66 (4).
pp. 318-320.
ISSN 0001-2815
DOI: https://doi.org/10.1111/j.1399-0039.2005.00494.x
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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.
