The association of the PTPN22 620W polymorphism with Behçet's disease
| Autor: | Philip I. Murray, E. Kondeatis, Robert Vaughan, Marwen Ghabra, Wafa Madanat, Farida Fortune, Vijay Baranathan, Elizabeth M. Graham, G R Wallace, C A Kanawati, Miles Stanford |
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| Jazyk: | angličtina |
| Rok vydání: | 2007 |
| Předmět: |
Systemic disease
Concise Report Immunology Single-nucleotide polymorphism Behcet's disease Polymorphism Single Nucleotide General Biochemistry Genetics and Molecular Biology PTPN22 Middle East Rheumatology Gene Frequency medicine Immunology and Allergy SNP Humans Genetic Predisposition to Disease Aged Autoimmune disease Retinal Vasculitis Retinal vasculitis business.industry Behcet Syndrome Protein Tyrosine Phosphatase Non-Receptor Type 22 Middle Aged medicine.disease eye diseases Arabs Protein Tyrosine Phosphatases Vasculitis business |
| Popis: | Objectives - A single nucleotide polymorphism (SNP) of the gene encoding protein tyrosine phosphatase type 22 (PTPN22 620W) has recently been described as a strong common genetic risk factor for human autoimmune disease. We have analysed the association of PTPN22 620W in patients with Behcet’s disease, (BD). Methods - Genomic DNA was obtained from 270 patients with BD from the UK and the Middle East. Normal controls (n=203) were collected from the same populations. Patients with idiopathic retinal vasculitis from the UK (n=136) were used as disease controls. PTPN22 620W was detected by SSP-PCR analysis and agarose gel electrophoresis. Results - The results showed an inverse correlation between the presence of PTPN22 620W and Behcet’s disease in either patient group tested. There was a greatly reduced prevalence in Middle Eastern compared to UK patients and controls. Finally, there was no association with either UK patients with retinal vasculitis or UK controls. Conclusions - The presence of PTPN22 620W was inversely associated with BD and the distribution of the SNP in the Middle East supports previous findings in the global prevalence. |
| Databáze: | OpenAIRE |
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