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

Authors: Baranathan, V  Stanford, MR  Vaughan, RW  Kondeatis, E  Graham, E  Fortune, F  Madanat, W  Kanawati, C  Ghabra, M  Murray, PI  Wallace, GR 
Citation: Baranathan V, etal., Ann Rheum Dis. 2007 Nov;66(11):1531-3. Epub 2007 Jul 27.
Pubmed: (View Article at PubMed) PMID:17660222
DOI: Full-text: DOI:10.1136/ard.2007.073866

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 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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CRRD Object Information
CRRD ID: 6484733
Created: 2012-07-03
Species: All species
Last Modified: 2012-07-03
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.