■目前,嗜睡症的病因尚未完全了解,它通常被认为是由环境因素和遗传因素之间的相互作用引起的自身免疫反应。人类白细胞抗原(HLA)II类基因与该基因密切相关,特别是HLA-DQB1*0602/DQA1*0102。在这项研究中,我们主要分析了中国发作性睡病患者HLA-DQB1*0602/DQA1*0102的不同基因型与临床表现的相关性。
■在神经内科接受治疗的嗜睡症患者,选择2021年1月至2023年9月山东第一医科大学第一附属医院。一般信息,睡眠监测数据,脑脊液(CSF)食欲素水平,收集人类白细胞抗原基因分型数据。使用SPSS26.0进行统计分析,并使用GraphPadPrism9.5绘制图表。
■本研究共纳入78例患者。在54例患者中检测到DQA1和DQB1基因位点,在24例嗜睡患者中仅检测到DQB1基因位点。HLA-DQB1基因座上最常见的等位基因是*0602(89.7%),该位点最常见的基因型是*0602*0301(19.2%),其次是*0602*0602(17.9%)。HLA-DQA1基因座最常见的表型是*0102(92.6%),该基因座最常见的基因型是*0102*0102(27.8%),其次是*0102*0505(14.8%)。HLA-DQB1*0602阳性和HLA-DQB1*0602阴性患者的食欲素-A水平存在显著差异(p<0.05),有无猝倒,UNS,PSG睡眠延迟,REM睡眠延迟,N1睡眠百分比,氧消耗指数,和MSLT上的平均REM延迟。HLA-DQA1*0102阳性和HLA-DQA1*0102阴性患者的病程差异有统计学意义(p<0.05),是否有突然发作,PSGREM睡眠延迟,N1睡眠百分比,和MSLT上的平均REM延迟。HLA-DQB1*0602/DQA1*0102纯合子和杂合子患者MSLT的平均REM潜伏期存在显著差异p<0.05,基线数据无差异,orexin-A水平,量表分数,或其他睡眠参数。
■HLA-DQA1*0102/DQB1*0602的不同基因型与中国嗜睡患者的猝倒症状相关。纯合子个体在MSLT中的平均REM潜伏期较短,更大的遗传易感性,和相对更严重的嗜睡。
UNASSIGNED: At present, the etiology of narcolepsy is not fully understood, and it is generally believed to be an autoimmune reaction caused by interactions between environmental and genetic factors. Human leukocyte antigen (HLA) class II genes are strongly associated with this gene, especially HLA-DQB1*0602/DQA1*0102. In this study, we mainly analyzed the correlation between different genotypes of HLA-DQB1*0602/DQA1*0102 and clinical manifestations in Chinese patients with narcolepsy.
UNASSIGNED: Narcolepsy patients who were treated at the Department of Neurology, The First Affiliated Hospital of Shandong First Medical University from January 2021 to September 2023 were selected. General information, sleep monitoring data, cerebrospinal fluid (CSF) orexin levels, and human leukocyte antigen gene typing data were collected. The statistical analysis was performed using SPSS 26.0, and the graphs were drawn using GraphPad Prism 9.5.
UNASSIGNED: A total of 78 patients were included in this study. The DQA1 and DQB1 gene loci were detected in 54 patients, and only the DQB1 gene locus was detected in 24 narcoleptic patients. The most common allele at the HLA-DQB1 locus was *0602 (89.7%), and the most common genotype at this locus was *0602*0301 (19.2%), followed by *0602*0602 (17.9%). The most common phenotype of the HLA-DQA1 locus is *0102 (92.6%), and the most common genotype of this locus is *0102*0102 (27.8%), followed by *0102*0505 (14.8%). There were significant differences (p < 0.05) between HLA-DQB1*0602-positive and HLA-DQB1*0602-negative patients in terms of orexin-A levels, presence or absence of cataplexy, UNS, PSG sleep latency, REM sleep latency, N1 sleep percentage, oxygen depletion index, and average REM latency on the MSLT. The HLA-DQA1*0102-positive and HLA-DQA1*0102-negative patients showed significant differences (p < 0.05) in disease course, presence or absence of sudden onset, PSG REM sleep latency, N1 sleep percentage, and average REM latency on the MSLT. There were significant differences in the average REM latency of the MSLT between HLA-DQB1*0602/DQA1*0102 homozygous and heterozygous patients p < 0.05, and no differences were found in the baseline data, orexin-A levels, scale scores, or other sleep parameters.
UNASSIGNED: Different genotypes of HLA-DQA1*0102/DQB1*0602 are associated with symptoms of cataplexy in Chinese narcoleptic patients. Homozygous individuals have a shorter mean REM latency in the MSLT, greater genetic susceptibility, and relatively more severe sleepiness.