Association of the PTPN22*R620W polymorphism with autoimmune myasthenia gravis

被引：95

作者：

Vandiedonck, C

Capdevielle, C

Giraud, M

Krumeich, S

Jais, JP

Eymard, B

Tranchant, C

Gajdos, P

Garchon, HJ

机构：

[1] Univ Paris 05, INSERM, Paris, France

[2] Univ Paris 05, Serv Biostat & Informat Med, Paris, France

[3] Hop La Pitie Salpetriere, Inst Myol, Paris, France

[4] CHRU, Neurol Serv, Hop Civil, Strasbourg, France

[5] Hop Raymond Poincare, Serv Reanimat, Garches, France

来源：

ANNALS OF NEUROLOGY | 2006年 / 59卷 / 02期

关键词：

D O I：

10.1002/ana.20751

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：404 / 407

页数：4

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