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Type: Journal article
Title: PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis
Author: Lester, S.
Hewitt, A.
Ruediger, C.
Bradbury, L.
De Smit, E.
Wiese, M.
Black, R.
Harrison, A.
Jones, G.
Littlejohn, G.
Merriman, T.
Shenstone, B.
Smith, M.
Rischmueller, M.
Brown, M.
Hill, C.
Citation: RMD Open, 2016; 2(1):e000246-1-e000246-3
Publisher: BMJ Publishing Group
Issue Date: 2016
ISSN: 2056-5933
Statement of
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
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.
Keywords: Gene Polymorphism
Description: Published online 7 April 2016.
Rights: Published by the BMJ Publishing Group Limited. Open Access This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work noncommercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://
RMID: 0030047069
DOI: 10.1136/rmdopen-2016-000246
Grant ID:
Appears in Collections:Medicine publications

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