NBDC Research ID: hum0029.v1



Aims: Identification of new susceptibility gene(s) to cole medicine-related Stevens-Johnson syndrome (SJS)

Methods: SNP-based genome-wide association study

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


Data Set IDType of DataCriteriaRelease Date
hum0029.v1.freq.v1 GWAS for SJS Un-restricted Access 2016/03/09

*Release Note




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)
Genotype Call Methods (software) Genotyping Console ver.
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 Data Set ID


(Click the Data Set ID to download the file)

Dictionary file

Total Data Volume 130 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.

*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



Principal Investigator: Mayumi Ueta

Affiliation: Kyoto Prefectural University of Medicine

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


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



TitleDOIData set ID

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