NBDC Research ID: hum0126.v2

 

SUMMARY

Aims: To identify the novel disease susceptibility genes for Childhood Idiopathic Nephrotic Syndrome

Methods: GWAS

Participants/Materials: Healthy controls and Childhood Idiopathic Nephrotic Syndrome patients

 

Dataset IDType of DataCriteriaRelease Date
hum0126.v1.gwas.v1 GWAS for 224 Childhood Idiopathic Nephrotic Syndrome patients and 419 healthy adult controls Unrestricted-access 2018/04/27
hum0126.v2.imp-gwas.v1 GWAS for 3,206 Childhood Idiopathic Nephrotic Syndrome patients and 987 healthy adult controls Unrestricted-access 2020/09/01

*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

hum0126.v1.gwas.v1

Participants/Materials 224 Childhood Idiopathic Nephrotic Syndrome patients (ICD10: N049) and 419 healthy adult controls
Targets genome wide SNPs
Target Loci for Capture Methods -
Platform Affymetrix [Japonica Array v1]
Library Source DNAs extracted from peripheral blood cells
Cell Lines -
Reagents (Kit, Version) Axiom 2.0 Reagent kit
Genotype Call Methods (software) Axiom Analysis suite 1.0.0.3
Filtering Methods Sample Call rate < 0.97, SNP call rate < 0.97, HWE P < 0.0001, MAF < 0.05
Marker Number (after QC) 495,887 SNPs (hg19)
NBDC Dataset ID

hum0126.v1.gwas.v1

(Click the Dataset ID to download the file)

Dictionary file

Total Data Volume 11.6 MB
Comments (Policies) NBDC policy

 

hum0126.v2.imp-gwas.v1

Participants/Materials 987 Childhood Idiopathic Nephrotic Syndrome patients (ICD10: N049) and 3,206 healthy adult controls
Targets genome wide SNPs
Target Loci for Capture Methods -
Platform Affymetrix [Japonica Array v1 / v2]
Library Source DNAs extracted from peripheral blood cells
Cell Lines -
Reagents (Kit, Version) Axiom 2.0 Reagent kit
Genotype Call Methods (software) Axiom Analysis suite 1.0.0.3
Filtering Methods

Sample Call rate < 0.97, SNP call rate < 0.97, HWE P < 0.0001, MAF < 0.05

Imputation quality (Rsq) < 0.5

Marker Number (after QC) 6,834,340 SNPs (hg19)
NBDC Dataset ID

hum0126.v2.imp-gwas.v1

(Click the Dataset ID to download the file)

Dictionary file

Total Data Volume 459 MB
Comments (Policies) NBDC policy

 

DATA PROVIDER

Principal Investigator: Kazumoto Iijima

Affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine

Project / Group Name: The Research Consortium on Genetics of Childhood Idiopathic Nephrotic Syndrome in Japan

Funds / Grants (Research Project Number):

NameTitleProject Number
Platform Program for Promotion of Genome Medicine, Japan Agency for Medical Research and Development (AMED) Identification of disease susceptible genes and drug sensitive genes in childhood nephrotic syndrome JP17km0405108
KAKENHI Fund for the Promotion of Joint International Research (Fostering Joint International Research (B)) Joint International Research for identification of disease-susceptible genes and drug-sensitive genes in childhood nephrotic syndrome 18KK0244

 

PUBLICATIONS

TitleDOIDataset ID
1 Strong Association of the HLA-DR/DQ Locus with Childhood Steroid-Sensitive Nephrotic Syndrome in the Japanese Population. doi: 10.1681/ASN.2017080859 hum0126.v1.gwas.v1
2 Common risk variants in NPHS1 and TNFSF15 are associated with childhood steroid-sensitive nephrotic syndrome. doi: 10.1016/j.kint.2020.05.029 hum0126.v2.imp-gwas.v1