The association of the PTPN22 620W polymorphism with Behcet's disease.
case_control · Level III
Where this comes from
- Record sourced from PubMed, PMID 17660222.
- Also identified by PMC identifier 2111602.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
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 Behçet's disease (BD). 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. The results showed an inverse correlation between the presence of PTPN22 620W and Behçet'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 compared with UK controls. 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.
Medical subject headings
- Behcet Syndrome
- Polymorphism, Single Nucleotide
- Protein Tyrosine Phosphatases