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The association of the PTPN22 620W polymorphism with Behcet's Disease.
  1. Vijay Barathan (vijaybarathan{at}gmail.com)
  1. Guy's, King's and St Thomas' Hospital Medical Schools, United Kingdom
    1. Miles R Stanford (miles.stanford{at}kcl.ac.uk)
    1. Guy's, King's and St Thomas' Hospital Medical Schools, United Kingdom
      1. Robert W Vaughan (robert.vaughan{at}kcl.ac.uk)
      1. Guy's, King's and St Thomas' Hospital Medical Schools, United Kingdom
        1. Elli Kondeatis (elli.kondeatis{at}gstt.nhs.uk)
        1. Guy's, King's and St Thomas' Hospital Medical Schools, United Kingdom
          1. Elizabeth M Graham (elizabeth.graham{at}gstt.nhs.uk)
          1. Guy's, King's and St Thomas' Hospital Medical Schools, United Kingdom
            1. Farida Fortune (f.fortune{at}qmul.ac.uk)
            1. Queen Mary's London, United Kingdom
              1. Wafa Madanat (wmadanat{at}index.com.jo)
              1. Jordan Hospital, Jordan
                1. Charlie Kanawati (charlie.kanawati{at}medstage.de)
                1. St John's Eye Hospital, Jerusalem, Israel
                  1. Marwen Ghabra (m.ghabra{at}hotmail.com)
                  1. University Hospital, Damascus, Syrian Arab Republic
                    1. Philip I Murray (p.i.murray{at}bham.ac.uk)
                    1. University of Birmingham, United Kingdom
                      1. Graham R Wallace (g.r.wallace{at}bham.ac.uk)
                      1. University of Birmingham, United Kingdom

                        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 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 or 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.

                        • Behcet's disease
                        • PTPN22
                        • polymorphism

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