ArticleNPJ genomic medicine2022
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia.
Article in NPJ genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 19 citations in OpenAlex.
- Safety and pharmacodynamics of a single infusion of danavorexton in adults with idiopathic hypersomnia.Sleep · 2023Trial
- Therapeutic potential of targeting the orexin (hypocretin) system in sleep disorders.Nature reviews. Endocrinology · 2026Review
- Clinical and polysomnographic changes in idiopathic hypersomnia ten years after the diagnosis.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2026Article
- Narcolepsy as an immune-associated hypothalamic encephalopathy: orexin dysfunction and implications for precision sleep medicine.Frontiers in psychiatry · 2026Review
- Genetic associations between orexin genes and phenotypes related to behavioral regulation in humans, including substance use.Molecular psychiatry · 2025Article
- Current knowledge on the pathophysiology of idiopathic hypersomnia and potential mechanisms of action for low-sodium oxybate treatment.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2025Review
- Prolonged stress alters the PC1/PC2 ratio in the rat lateral hypothalamus, implicating impaired orexin maturation.Iranian journal of basic medical sciences · 2024Article
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Authors and funding
44 authors at 20 institutions in 2 countries.
Funding
Abstract
Idiopathic hypersomnia (IH) is a rare, heterogeneous sleep disorder characterized by excessive daytime sleepiness. In contrast to narcolepsy type 1, which is a well-defined type of central disorders of hypersomnolence, the etiology of IH is poorly understood. No susceptibility loci associated with IH have been clearly identified, despite the tendency for familial aggregation of IH. We performed a variation screening of the prepro-orexin/hypocretin and orexin receptors genes and an association study for IH in a Japanese population, with replication (598 patients and 9826 controls). We identified a rare missense variant (g.42184347T>C; p.Lys68Arg; rs537376938) in the cleavage site of prepro-orexin that was associated with IH (minor allele frequency of 1.67% in cases versus 0.32% in controls, P = 2.7 × 10
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Registered trials
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