Literature DB >> 17660222

The association of the PTPN22 620W polymorphism with Behcet's disease.

Vijay Baranathan1, Miles R Stanford, Robert W Vaughan, Elli Kondeatis, Elizabeth Graham, Farida Fortune, Wafa Madanat, Charlie Kanawati, Marwen Ghabra, Philip I Murray, Graham R Wallace.   

Abstract

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.

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Year:  2007        PMID: 17660222      PMCID: PMC2111602          DOI: 10.1136/ard.2007.073866

Source DB:  PubMed          Journal:  Ann Rheum Dis        ISSN: 0003-4967            Impact factor:   19.103


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