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

Ann Rheum Dis. 2007 Nov;66(11):1531-3. doi: 10.1136/ard.2007.073866. Epub 2007 Jul 27.

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.

Publication types

  • Multicenter Study

MeSH terms

  • Aged
  • Arabs / genetics
  • Behcet Syndrome / ethnology
  • Behcet Syndrome / genetics*
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Humans
  • Middle Aged
  • Middle East
  • Polymorphism, Single Nucleotide*
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22
  • Protein Tyrosine Phosphatases / genetics*
  • Retinal Vasculitis / genetics

Substances

  • PTPN22 protein, human
  • Protein Tyrosine Phosphatase, Non-Receptor Type 22
  • Protein Tyrosine Phosphatases