PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis

Susan Lester, Alex W. Hewitt, Carlee D. Ruediger, Linda Bradbury, Elisabeth De Smit, Michael D. Wiese, Rachel Black, Andrew Harrison, Graeme Jones, Geoffrey O. Littlejohn, Tony R. Merriman, Bain Shenstone, Malcolm D. Smith, Maureen Rischmueller, Matthew A. Brown, Catherine L. Hill

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Giant cell arteritis (GCA) is one of the commonest forms of vasculitis in the elderly, and may result in blindness and stroke. The pathogenesis of GCA is not understood, although environmental, infectious and genetic risk factors are implicated. One gene of interest is PTPN22, encoding lymphoid protein tyrosine phosphatase (Lyp), expressed exclusively in immune cells, which is proposed to be an 'archetypal non-HLA autoimmunity gene'. The minor allele of a functional PTPN22 single nucleotide polymorphism (rs2476601, R620W), which disrupts an interaction motif in the protein, was originally reported to be associated with biopsy-proven GCA in Spanish patients, with supporting data from three replicate Northern European studies. Recently, this observation was extended with additional patients and controls, and studies encompassing European, Scandinavian, UK and American patients. The aim of our study was to determine the association between PTPN22 rs2476601 (R620W) and biopsy-proven GCA in an Australian case cohort.

Original languageEnglish
Article numbere000246
Number of pages3
JournalRMD Open
Issue number1
Publication statusPublished - 7 Apr 2016
Externally publishedYes


  • PTPN22
  • R620W
  • Giant Cell Arteritis


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