The autoimmunity-related polymorphism PTPN22 1858C/T is associated with anti-titin antibody-positive myasthenia gravis.
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.
Greve
Bernhard
B
Department of General Neurology, Hertie Institute for Clinical Brain Research, Tübingen, Germany. bernhard.greve@uni-tuebingen.de
Hoffmann
Peter
P
Illes
Zsolt
Z
Rozsa
Csilla
C
Berger
Klaus
K
Weissert
Robert
R
Melms
Arthur
A
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*
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