1. Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis.
- Author
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Vandiedonck C, Capdevielle C, Giraud M, Krumeich S, Jais JP, Eymard B, Tranchant C, Gajdos P, and Garchon HJ
- Subjects
- Adult, Aged, Alleles, Confidence Intervals, Connectin, DNA Mutational Analysis methods, Female, Gene Frequency, Humans, Male, Middle Aged, Muscle Proteins metabolism, Myasthenia Gravis classification, Odds Ratio, Protein Kinases metabolism, Protein Tyrosine Phosphatase, Non-Receptor Type 22, Arginine genetics, Genetic Predisposition to Disease, Myasthenia Gravis genetics, Polymorphism, Genetic, Protein Tyrosine Phosphatases genetics, Tryptophan genetics
- 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., Interpretation: Our genetic findings strengthen the concept that these groups of patients correspond to etiologically distinct disease entities.
- Published
- 2006
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