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Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis
Author(s) -
Vandiedonck Claire,
Capdevielle Claire,
Giraud Matthieu,
Krumeich Sophie,
Jais JeanPhilippe,
Eymard Bruno,
Tranchant Christine,
Gajdos Philippe,
Garchon HenriJean
Publication year - 2006
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.20751
Subject(s) - ptpn22 , myasthenia gravis , odds ratio , medicine , confidence interval , thymoma , autoimmune disease , antibody , immunology , allele , gastroenterology , single nucleotide polymorphism , genotype , biology , genetics , gene
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