PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis.
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.
Department of Rheumatology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia; Department of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Susan
S
Lester
Genetics and Population Health , University of Western Australia , Perth, Western Australia , Australia.
Alex W
AW
Hewitt
Department of Rheumatology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia; Department of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Carlee D
CD
Ruediger
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Qld, Australia; University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Qld, Australia.
Linda
L
Bradbury
Centre for Eye Research , Melbourne, Victoria , Australia.
Elisabeth
E
De Smit
School of Pharmacy and Medical Sciences, University of South Australia , Australia.
Michael D
MD
Wiese
Department of Rheumatology , The Queen Elizabeth Hospital , Woodville South, South Australia , Australia.
Rachel
R
Black
Department of Medicine , University of Otago Wellington , Wellington , New Zealand.
Andrew
A
Harrison
Department of Rheumatology , Menzies Research Institute, University of Tasmania , Hobart, Tasmania , Australia.
Graeme
G
Jones
Department of Rheumatology , Monash Medical Centre , Clayton, Victoria , Australia.
Geoffrey O
GO
Littlejohn
Department of Biochemistry , University of Otago , Dunedin , New Zealand.
Tony R
TR
Merriman
Department of Rheumatology Concord Hospital, Concord, New South Wales , Australia.
Bain
B
Shenstone
Department of Medicine , Flinders Medical Centre and Repatriation General Hospital , Adelaide, South Australia , Australia.
Malcolm D
MD
Smith
Department of Rheumatology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia; Department of Medicine, University of Adelaide, Adelaide, South Australia, Australia.
Maureen
M
Rischmueller
Institute of Health and Biomedical Innovation, Queensland University of Technology, Translational Research Institute, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Qld, Australia; University of Queensland Diamantina Institute, Translational Research Institute, Princess Alexandra Hospital, Ipswich Road, Woolloongabba, Qld, Australia.
Matthew A
MA
Brown
Department of Rheumatology, The Queen Elizabeth Hospital, Woodville South, South Australia, Australia; Department of Medicine, University of Adelaide, Adelaide, South Australia, Australia; The Health Observatory, University of Adelaide, Adelaide, South Australia, Australia.
Catherine L
CL
Hill
Gene Polymorphism; Giant Cell Arteritis; Systemic vasculitis