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.
- Behcet's disease