RGD Reference Report - The association of the PTPN22 620W polymorphism with Behcet's disease. - Rat Genome Database

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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.
RGD ID: 6484733
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.


Disease Annotations    
Behcet's disease  (IAGP,ISO)

Objects Annotated

Genes (Rattus norvegicus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22)

Genes (Mus musculus)
Ptpn22  (protein tyrosine phosphatase, non-receptor type 22 (lymphoid))

Genes (Homo sapiens)
PTPN22  (protein tyrosine phosphatase non-receptor type 22)

Additional Information