[人类白细胞抗原与发作性睡病。关于28例病例，其中2例人类白细胞抗原-DR2阴性]

[HLA and narcolepsy. Apropos of 28 cases including 2 negative HLA-DR2].

作者信息

Confavreux C, Gebuhrer L, Betuel H, Freidel C, Bastuji H, Jouvet M, Aimard G, Devic M

机构信息

Service de Neurologie, Hôpital Neurologique de Lyon.

出版信息

Rev Neurol (Paris). 1988;144(5):327-31.

PMID:3262232

Abstract

Association between narcolepsy and HLA-DR2 antigen is the strongest so far described between an HLA antigen and a disease. Among 28 narcoleptic patients, we found two HLA-DR2 negative cases: a caucasoid woman also suffering from dystrophia myotonica and a negroid. All of our patients were HLA-DQW1 positive. An hypothetical narcolepsy susceptibility gene could be located in the HLA region, closer to the DQ than to the DR gene. It could be a pathologic allele of a sleep controlling gene in linkage disequilibrium with DQW1. Presence of DQW1 is a quasi-requisite for the expression of narcolepsy. It is not sufficient as it is observed in 70 p. 100 of controls.

摘要

发作性睡病与HLA - DR2抗原之间的关联是迄今为止所描述的HLA抗原与疾病之间最强的关联。在28例发作性睡病患者中，我们发现了2例HLA - DR2阴性病例：1名患有强直性肌营养不良的白种女性和1名黑人。我们所有的患者HLA - DQW1均为阳性。一个假设的发作性睡病易感基因可能位于HLA区域，更靠近DQ基因而非DR基因。它可能是一个与睡眠控制基因相关的病理等位基因，与DQW1处于连锁不平衡状态。DQW1的存在几乎是发作性睡病表达的必要条件。但它并不充分，因为在70%的对照中也观察到了它的存在。