Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis.
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.
Vandiedonck
Claire
C
Institut National de la Santé et de la Recherche Médicale, Université Paris-Descartes, France.
Capdevielle
Claire
C
Giraud
Matthieu
M
Krumeich
Sophie
S
Jais
Jean-Philippe
JP
Eymard
Bruno
B
Tranchant
Christine
C
Gajdos
Philippe
P
Garchon
Henri-Jean
HJ
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*
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