Article Text

Download PDFPDF
The association of the PTPN22 620W polymorphism with Behçet’s disease
  1. Vijay Baranathan1,
  2. Miles R Stanford1,
  3. Robert W Vaughan2,
  4. Elli Kondeatis2,
  5. Elizabeth Graham1,
  6. Farida Fortune3,
  7. Wafa Madanat4,
  8. Charlie Kanawati5,
  9. Marwen Ghabra6,
  10. Philip I Murray7,
  11. Graham R Wallace7
  1. 1
    Departments of Ophthalmology, Guy’s, King’s and St Thomas’ Hospital Medical Schools
  2. 2
    Clinical Transplantation Laboratory Guy’s, King’s and St Thomas’ Hospital Medical Schools
  3. 3
    Department of Oral Medicine, Queen Mary, University of London
  4. 4
    Jordan Hospital, Amman, Jordan
  5. 5
    St. John Eye Hospital, Jerusalem
  6. 6
    University Hospital, Damascus, Syria
  7. 7
    Academic Unit of Ophthalmology, University of Birmingham, Birmingham
  1. Dr Graham Wallace, Academic Unit of Ophthalmology, Division of Immunity and Infection, University of Birmingham, Birmingham B15 2TT; g.r.wallace{at}


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.

Statistics from


Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.