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


Lester, S and Hewitt, AW and Ruediger, CD and Bradbury, L and De Smit, E and Wiese, MD and Black, R and Harrison, A and Jones, G and Littlejohn, GO and Merriman, TR and Shenstone, B and Smith, MD and Rischmueller, M and Brown, MA and Hill, CL, PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis, RMD Open, 2, (1) Article e000246. ISSN 2056-5933 (2016) [Refereed Article]


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Licensed under Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

DOI: doi:10.1136/rmdopen-2016-000246


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.

Item Details

Item Type:Refereed Article
Keywords:Gene Polymorphism, Giant Cell Arteritis, Systemic vasculitis
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Jones, G (Professor Graeme Jones)
ID Code:111353
Year Published:2016
Deposited By:Menzies Institute for Medical Research
Deposited On:2016-09-08
Last Modified:2022-08-26
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