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The PTPN22 620W allele is a risk factor for Wegener's granulomatosis

The PTPN22 620W allele is a risk factor for Wegener's granulomatosis Objective Analyses of families with multiple autoimmune disorders have revealed a functional polymorphism, 620W, in the intracellular tyrosine phosphatase gene PTPN22 as a predisposing factor for type 1 diabetes, seropositive rheumatoid arthritis, systemic lupus erythematosus, and Hashimoto thyroiditis, and the presence of the PTPN22 protein appears to herald the development of autoantibodies in these disorders. This study therefore examined whether the functionally relevant PTPN22 polymorphism is associated with Wegener's granulomatosis (WG). Methods A population‐based study was performed for the PTPN22 polymorphism in 199 patients with WG and in 399 healthy individuals. The R620W variation was investigated by simple restriction fragment‐length polymorphism analysis. Results The PTPN22 620W allele frequency was significantly increased in antineutrophil cytoplasmic antibody (ANCA)–positive WG patients compared with healthy controls (P < 0.001). The association was particularly striking in patients with kidney, lung, eye, and peripheral nervous system involvement (i.e., those with generalized WG). Conclusion The PTPN22 620W allele appears to be involved in the pathogenesis of WG, and ANCA positivity seems to be the hallmark. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Arthritis & Rheumatism Wiley

The PTPN22 620W allele is a risk factor for Wegener's granulomatosis

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References (28)

Publisher
Wiley
Copyright
Copyright © 2005 by the American College of Rheumatology
ISSN
0004-3591
eISSN
1529-0131
DOI
10.1002/art.21487
pmid
16320352
Publisher site
See Article on Publisher Site

Abstract

Objective Analyses of families with multiple autoimmune disorders have revealed a functional polymorphism, 620W, in the intracellular tyrosine phosphatase gene PTPN22 as a predisposing factor for type 1 diabetes, seropositive rheumatoid arthritis, systemic lupus erythematosus, and Hashimoto thyroiditis, and the presence of the PTPN22 protein appears to herald the development of autoantibodies in these disorders. This study therefore examined whether the functionally relevant PTPN22 polymorphism is associated with Wegener's granulomatosis (WG). Methods A population‐based study was performed for the PTPN22 polymorphism in 199 patients with WG and in 399 healthy individuals. The R620W variation was investigated by simple restriction fragment‐length polymorphism analysis. Results The PTPN22 620W allele frequency was significantly increased in antineutrophil cytoplasmic antibody (ANCA)–positive WG patients compared with healthy controls (P < 0.001). The association was particularly striking in patients with kidney, lung, eye, and peripheral nervous system involvement (i.e., those with generalized WG). Conclusion The PTPN22 620W allele appears to be involved in the pathogenesis of WG, and ANCA positivity seems to be the hallmark.

Journal

Arthritis & Rheumatism – Wiley

Published: Dec 1, 2005

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