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PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis
  1. Susan Lester1,2,
  2. Alex W Hewitt3,
  3. Carlee D Ruediger1,2,
  4. Linda Bradbury4,5,
  5. Elisabeth De Smit6,
  6. Michael D Wiese7,
  7. Rachel Black1,
  8. Andrew Harrison8,
  9. Graeme Jones9,
  10. Geoffrey O Littlejohn10,
  11. Tony R Merriman11,
  12. Bain Shenstone12,
  13. Malcolm D Smith13,
  14. Maureen Rischmueller1,2,
  15. Matthew A Brown4,5 and
  16. Catherine L Hill1,2,14
  1. 1Department of Rheumatology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia
  2. 2Department of Medicine, University of Adelaide, Adelaide, South Australia, Australia
  3. 3Genetics and Population Health, University of Western Australia, Perth, Western Australia, Australia
  4. 4Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Qld, Australia
  5. 5University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Qld, Australia
  6. 6Centre for Eye Research, Melbourne, Victoria, Australia
  7. 7School of Pharmacy and Medical Sciences, University of South Australia, Australia
  8. 8Department of Medicine, University of Otago Wellington, Wellington, New Zealand
  9. 9Department of Rheumatology, Menzies Research Institute, University of Tasmania, Hobart, Tasmania, Australia
  10. 10Department of Rheumatology, Monash Medical Centre, Clayton, Victoria, Australia
  11. 11Department of Biochemistry, University of Otago, Dunedin, New Zealand
  12. 12Department of Rheumatology Concord Hospital, Concord, New South Wales, Australia
  13. 13Department of Medicine, Flinders Medical Centre and Repatriation General Hospital, Adelaide, South Australia, Australia
  14. 14The Health Observatory, University of Adelaide, Adelaide, South Australia, Australia
  1. Correspondence to Susan Lester; susan.lester{at}


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.

  • Giant Cell Arteritis
  • Gene Polymorphism
  • Systemic vasculitis

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