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PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis
Citation
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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Copyright Statement
Licensed under Creative Commons Attribution-NonCommercial 4.0 International (CC BY-NC 4.0) https://creativecommons.org/licenses/by-nc/4.0/
DOI: doi:10.1136/rmdopen-2016-000246
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.
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 |
| Downloads: | 166 View Download Statistics |
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