Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis
- 25 January 2006
- journal article
- research article
- Published by Wiley in Annals of Neurology
- Vol. 59 (2) , 404-407
- https://doi.org/10.1002/ana.20751
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. Ann Neurol 2006;59:404–407Keywords
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