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.
| Original language | English |
|---|---|
| Pages (from-to) | 318-320 |
| Number of pages | 3 |
| Journal | Tissue Antigens |
| Volume | 66 |
| Issue number | 4 |
| DOIs | |
| Publication status | Published - Oct 2005 |
UN SDGs
This output contributes to the following UN Sustainable Development Goals (SDGs)
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SDG 3 Good Health and Well-being
Keywords
- Amino Acid Substitution
- Autoimmune Diseases
- Case-Control Studies
- Colitis, Ulcerative
- Crohn Disease
- Genetic Predisposition to Disease
- Genotype
- Great Britain
- Polymorphism, Single Nucleotide
- Protein Tyrosine Phosphatase, Non-Receptor Type 1
- Protein Tyrosine Phosphatase, Non-Receptor Type 22
- Protein Tyrosine Phosphatases
- Risk Factors
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