HLA-DQB1*06:02 等位基因频率与沙特阿拉伯发作性睡病患者的临床多导睡眠图特征。

HLA-DQB1*06:02 allele frequency and clinic-polysomnographic features in Saudi Arabian patients with narcolepsy.

机构信息

Department of Internal Medicine, College of Medicine, Al Imam Mohammad Ibn Saud Islamic University (IMSIU), Riyadh, Saudi Arabia.

University Sleep Disorders Center, College of Medicine, King Saud University, Riyadh, Saudi Arabia.

出版信息

Sleep Breath. 2019 Mar;23(1):303-309. doi: 10.1007/s11325-018-1717-4. Epub 2018 Sep 5.

DOI:10.1007/s11325-018-1717-4

PMID:30187366

Abstract

BACKGROUND

Narcolepsy is an uncommon neurological disorder characterised by irresistible spells of sleep associated with abnormal rapid eye movement (REM) sleep. The association between narcolepsy and human leukocyte antigen HLA- DQB1*06:02 has been established elsewhere but remains to be investigated among Saudi Arabian patients with narcolepsy.

METHODS

A total of 29 Saudi patients with type I or type 2 narcolepsy comprising of 23 (79%) males and 6 (21%) females with a mean age of 17.2 ± 9.6 years were included in this study. Type 1 or type 2 narcolepsy was diagnosed by full polysomnography followed by a multiple sleep latency test in accordance with International Classifications of Sleep Disorders-3 criteria. HLA typing for DQB1 alleles was performed by polymerase chain reaction and hybridization with sequence-specific oligonucleotide probes. Differences in clinical and sleep parameters were compared by univariable analyses. HLA-DQB1*06:02 frequency was systematically compared with the published literature.

RESULTS

Type 1 narcolepsy was diagnosed in 19/29 (65.5%) patients, whereas 10/29 (34.5%) patients had type 2 narcolepsy. DQB106:02 was present in 25/29 (86.2%) patients; 15/19 (78.9%) narcolepsy type 1 patients and 10/10 (100%) narcolepsy type 2 patients harboured the DQB106:02 allele. REM latency was significantly lower in DQB106:02-positive patients compared to DQB106:02-negative patients (17.6 ± 32.3 min vs. 106.0 ± 86.0 min; p = 0.025). Epworth Sleepiness Scale scores were significantly higher among type 1 than type 2 narcolepsy patients (19.7 ± 3.2 vs 15.3 ± 3.6; p = 0.02).

CONCLUSIONS

DQB1*06:02 allele frequencies among Saudi patients with narcolepsy were consistent with previously published data.

摘要

背景

发作性睡病是一种罕见的神经系统疾病，其特征是无法抗拒的睡眠发作，伴有异常的快速眼动（REM）睡眠。发作性睡病与人类白细胞抗原 HLA-DQB1*06:02 的关联已在其他地方得到证实，但在沙特阿拉伯发作性睡病患者中仍有待研究。

方法

本研究共纳入 29 例沙特发作性睡病患者，包括 23 例（79%）男性和 6 例（21%）女性，平均年龄为 17.2±9.6 岁。1 型或 2 型发作性睡病的诊断依据为全睡眠多导图检查，随后根据国际睡眠障碍分类-3 标准进行多次睡眠潜伏期试验。采用聚合酶链反应和序列特异性寡核苷酸探针杂交对 DQB1 等位基因进行 HLA 分型。通过单变量分析比较临床和睡眠参数的差异。系统比较 HLA-DQB1*06:02 频率与已发表文献。

结果

19/29 例（65.5%）患者诊断为 1 型发作性睡病，10/29 例（34.5%）患者诊断为 2 型发作性睡病。25/29 例（86.2%）患者存在 DQB106:02；19/19 例（78.9%）1 型发作性睡病患者和 10/10 例（100%）2 型发作性睡病患者携带 DQB106:02 等位基因。与 DQB106:02 阴性患者相比，DQB106:02 阳性患者的 REM 潜伏期明显更短（17.6±32.3 分钟比 106.0±86.0 分钟；p=0.025）。1 型发作性睡病患者的 Epworth 嗜睡量表评分明显高于 2 型发作性睡病患者（19.7±3.2 比 15.3±3.6；p=0.02）。