NBDC Research ID: hum0466.v1

 

SUMMARY

Aims: - Identification of risk and protective factors for dementia and depression

           - Elucidation of the overall picture of risk and protective factors for dementia and depression

           - Establishment of preventive strategy for dementia and depression

Methods: Genotyping, imputation, and genome-wide association study were performed.

Participants/Materials: Of the 9,479 community residents collected at the 8 facilities participating in the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) study.

URL: https://www.eph.med.kyushu-u.ac.jp/jpsc/en/

Dataset IDType of DataCriteriaRelease Date
hum0466.v1.gwas.v1 GWAS for JPSC-AD study Unrestricted-access 2024/11/20

*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

hum0466.v1.gwas.v1

Participants/Materials JPSC-AD study participants (ICD10: R90.8): 9,479 individuals
Targets Genome wide SNPs
Target Loci for Capture Methods -
Platform Japanese Screening Array-24 v1.0 Consortium BeadChip [Illumina]
Source DNAs extracted from peripheral blood cells
Cell Lines -
Reagents (Kit, Version) -
Genotype Call Methods (software)

Genotype call: GenomeStudio

Genotype imputation: Minimac4 v1.0.0

Imputation reference panel: whole genome sequences of 1,037 (BioBank Japan) and 2,504 (1000 Genomes Project (Phase 3v5)) (hum0014)

Association Analysis & Meta Analysis (software) BOLT-LMM
Filtering Methods

Sample QC: Gender discrepancy, sample call rate <98%, close relatives, and outliers (distance > 10sd short, 11sd long) were excluded.

Genotyping QC: Hardy-Weinberg equilibrium >1.0x10-6, call rate >99%, monomorphic, minor allele count <5, and frequency difference >6% with reference panel were excluded.

Post-imputation QC: Variants with minor allele frequency (MAF) <0.5% and Rsq <0.7 were excluded.

Marker Number (after QC) 8,495,153 variants
NBDC Dataset ID

hum0466.v1.gwas.v1

(Click the gwas number to download files)

Dictionary file

Total Data Volume 153.6 MB (txt)
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Toshiharu Ninomiya

Affiliation: Department of Epidemiology and Public Health, Graduate School of Medical Sciences, Kyushu University

Project / Group Name: JPSC-AD study

URL: https://www.eph.med.kyushu-u.ac.jp/jpsc/en/

Funds / Grants (Research Project Number):

Name Title Project Number
Research and Development Grants for Dementia, Japan Agency for Medical Research and Development (AMED) Genome and Neuroimaging Research on Dementia Based on Large-Scale Prospective Cohort Data JP24dk0207053
Suntory Holdings Limited - -

 

PUBLICATIONS

Title DOIDataset ID
1 Common protein-altering variant in GFAP is associated with white matter lesions in the older Japanese population. npj Genomic Med doi: 10.1038/s41525-024-00431-x hum0466.v1.gwas.v1