Vandiedonck Claire, Capdevielle Claire, Giraud Matthieu, Krumeich Sophie, Jais Jean-Philippe, Eymard Bruno, Tranchant Christine, Gajdos Philippe, Garchon Henri-Jean
Institut National de la Santé et de la Recherche Médicale, Université Paris-Descartes, France.
Ann Neurol. 2006 Feb;59(2):404-7. doi: 10.1002/ana.20751.
Our objective was to investigate a role of the intracellular tyrosine phosphatase PTPN22*R620W variant in autoimmune myasthenia gravis (MG), considering disease heterogeneity.
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.
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.
Our genetic findings strengthen the concept that these groups of patients correspond to etiologically distinct disease entities.
考虑到疾病的异质性，我们的目的是研究细胞内酪氨酸磷酸酶PTPN22*R620W变体在自身免疫性重症肌无力（MG）中的作用。
我们采用病例对照设计，比较了470例患者和296例对照，均为法国白人。根据是否存在胸腺瘤和血清抗肌动蛋白抗体对患者进行分类。
在293例无抗肌动蛋白抗体的非胸腺瘤患者中，620W风险等位基因增加（比值比，1.97；95%置信区间，1.32 - 2.97，p = 0.00059），但在有抗肌动蛋白抗体的非胸腺瘤患者或胸腺瘤患者中未增加。
我们的基因研究结果强化了这样一个概念，即这些患者群体对应于病因上不同的疾病实体。
