title: Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis.
abstract: OBJECTIVE
  Our objective was to investigate a role of the intracellular tyrosine phosphatase PTPN22*R620W variant in autoimmune myasthenia gravis (MG), considering disease heterogeneity.
  
  
  METHODS
  We used a case-control design, comparing 470 patients and 296 controls, all French whites. Patients were categorized depending on the presence of a thymoma and serum anti-titin antibodies.
  
  
  RESULTS
  The 620W risk allele was increased in 293 nonthymoma patients without anti-titin antibodies (odds ratio, 1.97; 95% confidence interval, 1.32-2.97, p = 0.00059) but not in nonthymoma patients with anti-titin antibodies or in thymoma patients.
  
  
  CONCLUSIONS
  Our genetic findings strengthen the concept that these groups of patients correspond to etiologically distinct disease entities.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale, Université Paris-Descartes, France.
authors.forename: Claire
authors.initials: C
authors.lastname: Vandiedonck
authors.forename: Claire
authors.initials: C
authors.lastname: Capdevielle
authors.forename: Matthieu
authors.initials: M
authors.lastname: Giraud
authors.forename: Sophie
authors.initials: S
authors.lastname: Krumeich
authors.forename: Jean-Philippe
authors.initials: JP
authors.lastname: Jais
authors.forename: Bruno
authors.initials: B
authors.lastname: Eymard
authors.forename: Christine
authors.initials: C
authors.lastname: Tranchant
authors.forename: Philippe
authors.initials: P
authors.lastname: Gajdos
authors.forename: Henri-Jean
authors.initials: HJ
authors.lastname: Garchon
mesh_terms: D000328:Adult; D000368:Aged; D000483:Alleles; D001120:Arginine / Q000235:genetics*; D016001:Confidence Intervals; D064211:Connectin; D004252:DNA Mutational Analysis / Q000379:methods; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000378:metabolism; D009157:Myasthenia Gravis / Q000145:classification / Q000235:genetics*; D016017:Odds Ratio; D011110:Polymorphism, Genetic; D011494:Protein Kinases / Q000378:metabolism; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D014364:Tryptophan / Q000235:genetics*
chemical_list: D064211:Connectin; D009124:Muscle Proteins; C577285:TTN protein, human; D014364:Tryptophan; D001120:Arginine; D011494:Protein Kinases; C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22; D017027:Protein Tyrosine Phosphatases