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

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

doi:10.1136/rmdopen-2016-000246

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

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

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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.

Original language	English
Article number	e000246
Number of pages	3
Journal	RMD Open
Volume	2
Issue number	1
DOIs	https://doi.org/10.1136/rmdopen-2016-000246
Publication status	Published - 7 Apr 2016
Externally published	Yes

Keywords

PTPN22
R620W
Giant Cell Arteritis

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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), Article e000246. https://doi.org/10.1136/rmdopen-2016-000246

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title = "PTPN22 R620W minor allele is a genetic risk factor for giant cell arteritis",

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 = "PTPN22, R620W, Giant Cell Arteritis",

author = "Susan Lester and Hewitt, {Alex W.} and Ruediger, {Carlee D.} and Linda Bradbury and {De Smit}, Elisabeth and Wiese, {Michael D.} and Rachel Black and Andrew Harrison and Graeme Jones and Littlejohn, {Geoffrey O.} and Merriman, {Tony R.} and Bain Shenstone and Smith, {Malcolm D.} and Maureen Rischmueller and Brown, {Matthew A.} and Hill, {Catherine L.}",

year = "2016",

month = apr,

day = "7",

doi = "10.1136/rmdopen-2016-000246",

language = "English",

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AU - Lester, Susan

AU - Hewitt, Alex W.

AU - Ruediger, Carlee D.

AU - Bradbury, Linda

AU - De Smit, Elisabeth

AU - Wiese, Michael D.

AU - Black, Rachel

AU - Harrison, Andrew

AU - Jones, Graeme

AU - Littlejohn, Geoffrey O.

AU - Merriman, Tony R.

AU - Shenstone, Bain

AU - Smith, Malcolm D.

AU - Rischmueller, Maureen

AU - Brown, Matthew A.

AU - Hill, Catherine L.

PY - 2016/4/7

Y1 - 2016/4/7

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.

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ER -

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

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