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

 

Data Set IDType of DataCriteriaRelease Date
hum0072.v1.nrc.v1 GWAS for 409 patients with narcolepsy-cataplexy and 1562 healthy controls Un-restricted 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 Un-restricted Access 2017/12/26

*Release Note

*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

hum0072.v1.nrc.v1

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 Data Set ID

hum0072.v1.nrc.v1

(Click the Data Set ID to download the file)

Dictionary file

Total Data Volume 69 MB
Comments (Policies) NBDC policy

 

hum0072.v1.ehs.v1

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 Data Set ID

hum0072.v1.ehs.v1

(Click the Data Set ID to download the file)

Dictionary 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):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas Variation and disease associations of HLA genes 22133008

 

PUBLICATIONS

TitleDOIData Set 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