Human narcolepsy is a genetically complex disorder. Family studies indicate a 20-40 times increased risk of narcolepsy in first-degree relatives and twin studies suggest that nongenetic factors also play a role. The tight association between narcolepsy-cataplexy and the HLA allele DQB1*0602 suggests that narcolepsy has an autoimmune etiology. In recent years, extensive genetic studies in animals, using positional cloning in dogs and gene knockouts in mice, have identified abnormalities in hypothalamic hypocretin (orexin) neurotransmission as key to narcolepsy pathophysiology. Though most patients with narcolepsy-cataplexy are hypocretin deficient, mutations or polymorphisms in hypocretin-related genes are extremely rare. It is anticipated that susceptibility genes that are independent of HLA and impinge on the hypocretin neurotransmitter system are isolated in human narcolepsy.

中文翻译：

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嗜睡症的遗传学。

人类发作性睡病是一种遗传复杂的疾病。家庭研究表明，一级亲属的发作性睡病风险增加了20-40倍，而双胞胎研究表明，非遗传因素也起作用。发作性睡病与HLA等位基因DQB1 * 0602之间的紧密联系表明，发作性睡病具有自身免疫性病因。近年来，广泛的动物遗传学研究使用狗的位置克隆和小鼠的基因敲除技术，已将下丘脑降钙素（orexin）神经传递异常确定为发作性睡病病理生理学的关键。尽管大多数患有发作性睡病的患者患有降钙素缺乏症，但与降钙素相关基因的突变或多态性却极为罕见。