title: The autoimmunity-related polymorphism PTPN22 1858C/T is associated with anti-titin antibody-positive myasthenia gravis.
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.
authors.affiliation: Department of General Neurology, Hertie Institute for Clinical Brain Research, Tübingen, Germany. bernhard.greve@uni-tuebingen.de
authors.forename: Bernhard
authors.initials: B
authors.lastname: Greve
authors.forename: Peter
authors.initials: P
authors.lastname: Hoffmann
authors.forename: Zsolt
authors.initials: Z
authors.lastname: Illes
authors.forename: Csilla
authors.initials: C
authors.lastname: Rozsa
authors.forename: Klaus
authors.initials: K
authors.lastname: Berger
authors.forename: Robert
authors.initials: R
authors.lastname: Weissert
authors.forename: Arthur
authors.initials: A
authors.lastname: Melms
mesh_terms: D001323:Autoantibodies / Q000276:immunology*; D015551:Autoimmunity; D016022:Case-Control Studies; D064211:Connectin; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005858:Germany; D006801:Humans; D006814:Hungary; D015810:Linkage Disequilibrium; D009124:Muscle Proteins / Q000276:immunology*; D009157:Myasthenia Gravis / Q000235:genetics* / Q000276:immunology; D020641:Polymorphism, Single Nucleotide / Q000235:genetics* / Q000276:immunology; D011494:Protein Kinases / Q000276:immunology*; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics*
chemical_list: D001323:Autoantibodies; D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D011494:Protein Kinases; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22