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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}bham.ac.uk

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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