NBDC Research ID: hum0264.v1
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SUMMARY
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： https://www.igakuken.or.jp/english/project/detail/sleep1.html
| Data Set ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| hum0264.v1.gwas.v1 | GWAS for Idiopathic hypersomnia | Un-restricted Access | 2022/02/07 |
MOLECULAR DATA
| Participants/Materials |
Idiopathic hypersomnia (ICD10: G47.11): 129 patients (13 orexin mutation-positive patients, 116 orexin mutation-negative patients) |
| Targets | genome wide SNPs |
| Target Loci for Capture Methods | - |
| Platform | Affymetrix [Genome-Wide Human SNP Array 6.0] |
| Library Source | DNAs extracted from peripheral blood cells |
| Cell Lines | - |
| Reagents (Kit, Version) | Affymetrix Genome-Wide Human SNP Nsp/Sty Assay Kit 6.0 |
| Genotype Call Methods (software) | GeneChip Operating Software (GCOS), Genotyping Console 4.0 |
| Filtering | SNP call rate < 0.97, HWE P < 0.001, MAF < 0.05, non-autosomal chromosomes |
| Marker Number (after QC) | 487,321 SNPs (ref: GRCh37.p13) |
| Analysis Method (software) | PLINK, R |
| NBDC Data Set ID |
(Click the Data Set ID to download the file) |
| Total Data Volume | 30 MB (xlsx) |
| Comments (Policies) | NBDC policy |
*When the research results including the data which were downloaded from NHA/DRA, are published or presented somewhere, the data user must refer the papers which are related to the data, or include in the acknowledgment. Learn more
DATA PROVIDER
Principal Investigator: Makoto Honda
Affiliation: Psychiatry and Behavioral Science, Tokyo Metropolitan Institute of Medical Science
Project / Group Name: Sleep Disorders Project
URL： https://www.igakuken.or.jp/english/project/detail/sleep1.html
Funds / Grants (Research Project Number):
| Name | Title | Project 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 | 19ek0109208h0003 |
| 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 |
PUBLICATIONS
| Title | DOI | Data Set ID | |
|---|---|---|---|
| 1 | |||
| 2 |
