RT Journal Article
SR Electronic
T1 The association of the PTPN22 620W polymorphism with Behçet’s disease
JF Annals of the Rheumatic Diseases
JO Ann Rheum Dis
FD BMJ Publishing Group Ltd and European League Against Rheumatism
SP 1531
OP 1533
DO 10.1136/ard.2007.073866
VO 66
IS 11
A1 Baranathan, Vijay
A1 Stanford, Miles R
A1 Vaughan, Robert W
A1 Kondeatis, Elli
A1 Graham, Elizabeth
A1 Fortune, Farida
A1 Madanat, Wafa
A1 Kanawati, Charlie
A1 Ghabra, Marwen
A1 Murray, Philip I
A1 Wallace, Graham R
YR 2007
UL http://ard.bmj.com/content/66/11/1531.abstract
AB 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 Behçet’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 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.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.