Narcolepsy is a term that was initially coined by Gélineáu in 1880 and is a chronic neurological sleep disorder that manifests as a difficulty in maintaining wakefulness and sleep for long periods. Currently, narcolepsy is subdivided into two types according to the International Classification of Sleep Disorders, 3rd edition: narcolepsy type 1 (NT1) and narcolepsy type 2 (NT2). NT1 is characterized by excessive daytime sleepiness, cataplexy, hypnagogic hallucinations, and sleep paralysis and is caused by a marked reduction in neurons in the hypothalamus that produce orexin (hypocretin), which is a wakefulness-associated neuropeptide. Except for cataplexy, NT2 exhibits most of the same symptoms as NT1. NT1 is a multifactorial disease, and genetic variations at multiple loci are associated with NT1. Almost all patients with NT1 carry the specific human leukocyte antigen (HLA) allele HLA-DQB1 * 06:02. Genome-wide association studies have uncovered >10 genomic variations associated with NT1. Rare variants associated with NT1 have also been identified by DNA genome sequencing. NT2 is also a complex disorder, but its underlying genetic architecture is poorly understood. However, several studies have revealed loci that increase susceptibility to NT2. The currently identified loci cannot explain the heritability of narcolepsy (NT1 and NT2). We expect that future genomic research will provide important contributions to our understanding of the genetic basis and pathogenesis of narcolepsy.

中文翻译：

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发作性睡病的遗传学。

发作性睡病这个术语最初由Gélineáu于1880年提出，是一种慢性神经系统性睡眠障碍，表现为难以长时间保持清醒和睡眠。当前，根据第三版《国际睡眠障碍分类》将发作性睡病分为两种：发作性睡病1型（NT1）和发作性睡病2型（NT2）。NT1的特征是白天过度嗜睡，瘫痪，催眠幻觉和睡眠麻痹，并且是由下丘脑中产生食欲素（hypocretin）的下丘脑神经元明显减少引起的，而orexin是与觉醒相关的神经肽。除瘫痪外，NT2表现出与NT1大部分相同的症状。NT1是一种多因素疾病，并且多个位点的遗传变异与NT1相关。几乎所有NT1患者都携带特定的人白细胞抗原（HLA）等位基因HLA-DQB1 * 06:02。全基因组关联研究已经发现与NT1相关的> 10个基因组变异。DNA基因组测序也鉴定了与NT1相关的罕见变体。NT2也是一种复杂的疾病，但对其潜在的遗传结构了解甚少。但是，一些研究表明，基因座增加了对NT2的敏感性。目前确定的基因座无法解释嗜睡症的遗传性（NT1和NT2）。我们希望未来的基因组研究将为我们对发作性睡病的遗传基础和发病机理的理解提供重要的贡献。DNA基因组测序也鉴定了与NT1相关的罕见变体。NT2也是一种复杂的疾病，但对其潜在的遗传结构了解甚少。但是，一些研究表明，基因座增加了对NT2的易感性。目前确定的基因座无法解释嗜睡症的遗传性（NT1和NT2）。我们希望未来的基因组研究将为我们对发作性睡病的遗传基础和发病机理的理解提供重要的贡献。DNA基因组测序也鉴定了与NT1相关的罕见变体。NT2也是一种复杂的疾病，但对其潜在的遗传结构了解甚少。但是，一些研究表明，基因座增加了对NT2的敏感性。目前确定的基因座无法解释嗜睡症的遗传性（NT1和NT2）。我们希望未来的基因组研究将为我们对发作性睡病的遗传基础和发病机理的理解提供重要的贡献。