TY - JOUR
T1 - PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis
AU - Lester, S.
AU - Hewitt, Alex W.
AU - Ruediger, C.D.
AU - Bradbury, L.
AU - De Smit, E.
AU - Wiese, M.D.
AU - Black, R.
AU - Harrison, A.
AU - Jones, G.
AU - Littlejohn, G.O.
AU - Merriman, T.R.
AU - Shenstone, B.
AU - Smith, M.D.
AU - Rischmueller, M.
AU - Brown, M.A.
AU - Hill, C.L.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
U2 - 10.1136/rmdopen-2016-000246
DO - 10.1136/rmdopen-2016-000246
M3 - Article
C2 - 27110387
SN - 2056-5933
VL - 2
JO - RMD Open
JF - RMD Open
IS - 1
M1 - e000246
ER -