对发作性睡病患者和健康对照者进行的病例对照研究，这些健康对照者与患者一样，同时拥有HLA - DRB11501和 - DQB10602。

Case-control study with narcoleptic patients and healthy controls who, like the patients, possess both HLA-DRB11501 and -DQB10602.

作者信息

Hohjoh H, Terada N, Nakayama T, Kawashima M, Miyagawa T, Honda Y, Tokunaga K

机构信息

Department of Human Genetics, Graduate School of Medicine, University of Tokyo, Tokyo, Japan.

出版信息

Tissue Antigens. 2001 Mar;57(3):230-5. doi: 10.1034/j.1399-0039.2001.057003230.x.

DOI:10.1034/j.1399-0039.2001.057003230.x

PMID:11285131

Abstract

In previous studies, we suggested that the tumor necrosis factor (TNF-alpha and its receptor 2 (TNFR2) genes could be associated with the susceptibility to human narcolepsy, and that haplotype carrying DRB11502 had a negative association with the disorder. To further evaluate these associations, we herein compared narcoleptic patients with healthy individuals who, like the patients, possessed both DRB11501 and DQB10602. Results agreed with the negative association of DRB11502 and positive association of the TNF-alpha(-857T) and TNFR2-196R combination with the disorder. In addition, a significant association of the TNF-alpha(-857T) homozygote with the disorder and an increase in a rare haplotype carrying DRB1*1501 and TNF-alpha(-857T) in the patients were also observed in the present study.

摘要

在先前的研究中，我们认为肿瘤坏死因子（TNF-α）及其受体2（TNFR2）基因可能与人发作性睡病的易感性相关，并且携带DRB11502的单倍型与该疾病呈负相关。为了进一步评估这些关联，我们在此将发作性睡病患者与健康个体进行了比较，这些健康个体与患者一样，同时拥有DRB11501和DQB10602。结果与DRB11502的负相关以及TNF-α（-857T）和TNFR2-196R组合与该疾病的正相关一致。此外，在本研究中还观察到TNF-α（-857T）纯合子与该疾病的显著关联以及患者中携带DRB1*1501和TNF-α（-857T）的罕见单倍型增加。