111353 Journal Article.pdf (164.88 kB)
PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis
journal contribution
posted on 2023-05-18, 22:13 authored by Lester, S, Alexander HewittAlexander Hewitt, Ruediger, CD, Bradbury, L, De Smit, E, Wiese, MD, Black, R, Harrison, A, Graeme JonesGraeme Jones, Littlejohn, GO, Merriman, TR, Shenstone, B, Smith, MD, Rischmueller, M, Brown, MA, Hill, CLGiant 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.
History
Publication title
RMD OpenArticle number
e000246Number
e000246Pagination
1-3ISSN
2056-5933Department/School
Menzies Institute for Medical ResearchPublisher
B M J GroupPlace of publication
United KingdomRights statement
Licensed under Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) https://creativecommons.org/licenses/by-nc/4.0/Repository Status
- Open