NBDC Research ID: hum0029.v2

 

SUMMARY

Aims: Identification of new susceptibility gene(s) to cole medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN)

Methods: SNP-based and SNV/INDEL/structural variation-based genome-wide association study.

Participants/Materials: Patients with cold medicine-related SJS/TEN and healthy controls

 

Dataset IDType of DataCriteriaRelease Date
hum0029.v1.freq.v1 GWAS for SJS Unrestricted-access 2016/03/09
hum0029.v2.var.v1 GWAS for SJS/TEN Unrestricted-access 2020/12/21

*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

hum0029.v1.freq.v1

Participants/Materials: 117 SJS patients and 691 healthy controls
Targets genome wide SNPs
Target Loci for Capture Methods -
Platform Affymetrix [Axiom Genome-Wide ASI 1 Array]
Source gDNA extracted from peripheral blood cells
Cell Lines -
Reagents (Kit, Version) AXIOM 2.0 Reagent Kit
Genotype Call Methods (software) Genotyping Console ver. 4.2.0.26
Filtering Methods Sample Call rate < 0.95, SNP call rate < 0.97, HWE P < 0.001
Marker Number (after QC) 449,205 SNPs (hg19)
NBDC Dataset ID

hum0029.v1.freq.v1

(Click the Dataset ID to download the file)

Dictionary file

Total Data Volume 130 MB
Comments (Policies) NBDC policy

 

hum0029.v2.var.v1

Participants/Materials: 133 SJS/TEN patients (ICD10: L511) and 418 healthy controls
Targets genome wide SNPs
Target Loci for Capture Methods -
Platform Illumina [HiSeq X Ten]
Source gDNA extracted from peripheral blood cells
Cell Lines -
Reagents (Kit, Version) TruSeq® DNA PCR-Free Sample Prep Kit
Genotype Call Methods (software) GATK3.8 HaplotypeCaller, MELT 2.1.4, LUMPY 0.2.3, SVTyper 0.6.1
Filtering Methods variant call rates < 95%, MAF < 1%, or HWE p-value < 1×10^-5
Marker Number (after QC) 7,173,860 variants (hg19)
NBDC Dataset ID

hum0029.v2.var.v1

(Click the Dataset ID to download the file)

Dictionary file

Total Data Volume 122 MB
Comments (Policies) NBDC policy

*This study was supported by “Genome Science”. “Genome Science” is a part of the “Support Programs for Three Fields in Life Sciences (cancer, genome and brain sciences)” established by the Ministry of Education, Culture, Sports, Science and Technology (MEXT) under the Grant-in-Aid for Scientific Research on Innovative Areas.

 

DATA PROVIDER

Principal Investigator: Mayumi Ueta

Affiliation: Kyoto Prefectural University of Medicine

Project / Group Name: Department of Frontier Medical Science and Technology for Ophthalmology

URL: http://frontier-medueta.com/english/index.html

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific research (B) Pioneering research for elucidation of pathogenic mechanism and prediction of onset risk 22390325
Tailor-made Medical Treatment Program (BioBank Japan: BBJ) Genetic and Pathogenic studies on cold medicine-related severe drug adverse reactions -
KAKENHI Grant-in-Aid for Scientific Research on Innovative Areas Genome Science 221S0002

 

PUBLICATIONS

TitleDOIDataset ID
1 IKZF1, a new susceptibility gene for cold medicine-related Stevens-Johnson syndrome/toxic epidermal necrolysis with severe mucosal involvement. doi: 10.1016/j.jaci.2014.12.1916 hum0029.v1.freq.v1
2 Mapping of susceptible variants for cold medicine-related Stevens-Johnson syndrome by whole-genome resequencing doi: 10.1038/s41525-021-00171-2 hum0029.v2.var.v1