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

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    6
    Author
    Lester, S; Hewitt, AW; Ruediger, CD; Bradbury, L; De Smit, E; Wiese, MD; Black, R; Harrison, A; Jones, G; Littlejohn, GO; ...
    Date
    2016
    Source Title
    RMD Open
    Publisher
    BMJ
    University of Melbourne Author/s
    Hewitt, Alexander; De Smit, Elisabeth
    Affiliation
    Centre for Eye Research Australia (CERA)
    Metadata
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    Document Type
    Journal Article
    Citations
    Lester, S., Hewitt, A. W., Ruediger, C. D., Bradbury, L., De Smit, E., Wiese, M. D., Black, R., Harrison, A., Jones, G., Littlejohn, G. O., Merriman, T. R., Shenstone, B., Smith, M. D., Rischmueller, M., Brown, M. A. & Hill, C. L. (2016). PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis.. RMD Open, 2 (1), pp.e000246-. https://doi.org/10.1136/rmdopen-2016-000246.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/270377
    DOI
    10.1136/rmdopen-2016-000246
    Open Access at PMC
    http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4838769
    Abstract
    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.

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