Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis

Authors


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;59:404–407

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