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Following a change to our organizational structure effective April 1, 2026, this division has been renamed from the "Database Center for Life Science, Joint Support-Center for Data Science Research" to the "Database Division for Life Science (DBCLS), BioData Science Initiative (BSI), National Institute of Genetics (NIG)". Where the former name still appears in the guidelines, please read it as the new name.

Research ID

hum0264-v2Release info

Latest

Research title

Elucidation of the pathogenesis and identification of susceptibility genes for sleep disorders by genetic and functional analyses.

Research overview

Aims
Central disorders of hypersomnolence are lifelong disorders characterized by recurrent episodes of excessive daytime sleepiness. Central disorders of hypersomnolence include narcolepsy (type 1 and type 2) and idiopathic hypersomnia. The pathogenesis of central disorders of hypersomnolence is poorly understood. No effective treatment for the disorders has been established. We expect that genetic researches will provide important contributions to understand the genetic basis and pathogenesis of the disorders. To identify susceptibility genes associated with central disorders of hypersomnolence, we will perform genome-wide association analyses, sequencing analyses and so on for the disorders.
Methods
We performed a genome-wide association study using genotyping data obtained from SNP chip.
Participants/materials
Idiopathic hypersomnia (13 orexin mutation-positive patients, 116 orexin mutation-negative patients)
URL

Datasets

CartDataset IDType of dataAnalysis methodAccess criteriaDate published
JGAD000626SNP array data for Idiopathic hypersomnia
  • Genotyping by array
Controlled-access (Type I)2022-02-21
NHA000165GWAS for Idiopathic hypersomnia
  • Genotyping by array
Unrestricted-access2022-02-07

Data provider

Principal investigator
Makoto Honda
Affiliation
Psychiatry and Behavioral Science, Tokyo Metropolitan Institute of Medical Science

Research projects

Grants

NameTitleProject number
Practical Research Project for Rare / Intractable Diseases, Japan Agency for Medical Research and Development (AMED)
Elucidation of the pathogenesis and identification of susceptibility genes for central disorders of hypersomnolence by an integrated genetic analysis
  • JP19ek0109208
KAKENHI Grant-in-Aid for Scientific Research (B)
Searching for susceptibility genes for narcolepsy, and their application for precision medicine
  • 15H04709
KAKENHI Grant-in-Aid for Scientific Research (B)
Elucidation of the pathogenesis of narcolepsy by metabolome/genome analysis and its application to personalized medicine
  • 19H03588

Related publications

TitleDOIDataset ID
Genome-wide association study of idiopathic hypersomnia in a Japanese population
https://doi.org/10.1007/s41105-021-00349-2 (opens in a new tab)
A rare genetic variant in the cleavage site of prepro-orexin is associated with idiopathic hypersomnia
https://doi.org/10.1038/s41525-022-00298-w (opens in a new tab)

Controlled access users

No use of the controlled access data has been recorded.