The autoimmunity-related polymorphism PTPN22 1858C/T is associated with anti-titin antibody-positive myasthenia gravis

Bernhard Greve, Peter Hoffmann, Zsolt Illes, Csilla Rozsa, Klaus Berger, Robert Weissert, Arthur Melms

Research output: Contribution to journalArticle

24 Citations (Scopus)

Abstract

Genetic variation in the intracellular tyrosine phosphatase PTPN22 has been recently associated with susceptibility to various autoimmune diseases. Myasthenia gravis (MG) is a complex genetic disease with a distinct clinical and pathological heterogeneity. We conducted a case-control association study for the PTPN22 1858C/T polymorphism in Hungarian and German MG patients (n = 282) and regional controls (n = 379). We detected an association of the PTPN22 1858T allele with MG in the subgroup of nonthymoma patients with anti-titin antibodies present (n = 50; T allele frequency 21% vs 11% in controls; p = 0.005, odds ratio 2.1, 95% confidence interval 1.23-3.58). This overrepresentation was reported independently in both Hungarian and German MG patients compared with regional controls. We conclude that the common autoimmune polymorphism PTPN22 1858C/T may account for disease susceptibility in a subset of nonthymoma MG patients with anti-titin antibodies present.

Original languageEnglish
Pages (from-to)540-542
Number of pages3
JournalHuman Immunology
Volume70
Issue number7
DOIs
Publication statusPublished - Jul 1 2009

Keywords

  • Genetic association
  • Myasthenia gravis
  • PTPN22
  • Titin antibody

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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