NBDC Research ID: hum0072.v1
SUMMARY
Aims: Identification and functional analyses of susceptibility genes to narcolepsy and other sleep disorders
Methods: SNP-based genome-wide association study and functional analysis
Participants/Materials: (1) 409 patients with narcolepsy-cataplexy and 1562 healthy controls
(2) 125 patients with HLA-DQB1*06:02 negative essential hypersomnia and 562 HLA-DQB1*06:02 negative healthy controls
| Dataset ID | Type of Data | Criteria | Release Date |
|---|---|---|---|
| hum0072.v1.nrc.v1 | GWAS for 409 patients with narcolepsy-cataplexy and 1562 healthy controls | Unrestricted-access | 2017/12/26 |
| hum0072.v1.ehs.v1 | GWAS for 125 patients with HLA-DQB1*06:02 negative essential hypersomnia and 562 HLA-DQB1*06:02 negative healthy controls | Unrestricted-access | 2017/12/26 |
*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
MOLECULAR DATA
| Participants/Materials |
409 patients with narcolepsy-cataplexy 1562 healthy controls |
| Targets | genome wide SNPs |
| Target Loci for Capture Methods | - |
| Platform | Affymetrix [Genome-Wide Human SNP Array 6.0] |
| Library Source | gDNA 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) | Birdseed (version 1.5.5) |
| Filtering Methods | Sample call rate < 0.95, SNP call rate < 0.97, HWE P (in control) < 0.001 |
| Marker Number (after QC) | 525,198 autosomal non-HLA SNPs (hg18) |
| NBDC Dataset ID |
(Click the Dataset ID to download the file) |
| Total Data Volume | 69 MB |
| Comments (Policies) | NBDC policy |
| Participants/Materials |
125 patients with HLA-DQB1*06:02 negative essential hypersomnia 562 HLA-DQB1*06:02 negative healthy controls |
| Targets | genome wide SNPs |
| Target Loci for Capture Methods | - |
| Platform | Affymetrix [Genome-Wide Human SNP Array 6.0] |
| Library Source | gDNA 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) | Birdseed (version 1.5.5) |
| Filtering Methods | Sample call rate < 0.95, SNP call rate < 0.99, HWE P < 0.001 |
| Marker Number (after QC) | 508,309 SNPs (hg18) |
| NBDC Dataset ID |
(Click the Dataset ID to download the file) |
| Total Data Volume | 31.6 MB |
| Comments (Policies) | NBDC policy |
DATA PROVIDER
Principal Investigator: Katsushi Tokunaga
Affiliation: Graduate School of Medicine, The University of Tokyo
Project / Group Name: Department of Human Genetics
URL: http://www.humgenet.m.u-tokyo.ac.jp/index.en.html
Funds / Grants (Research Project Number):
| Name | Title | Project Number |
|---|---|---|
| KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas | Variation and disease associations of HLA genes | 22133008 |
PUBLICATIONS
| Title | DOI | Dataset ID | |
|---|---|---|---|
| 1 | A polymorphism in CCR1/CCR3 is associated with narcolepsy | doi: 10.1016/j.bbi.2015.05.003 | hum0072.v1.nrc.v1 |
| 2 | Genome-wide association study of HLA-DQB1*06:02 negative essential hypersomnia | doi: 10.7717/peerj.66 | hum0072.v1.ehs.v1 |
