NBDC Research ID: hum0076.v1



Aims: Genome-wide search for susceptibility genes to primary biliary cholangitis (PBC)

Methods: SNP-based genome-wide association study

Participants/Materials: 487 PBCs and 476 healthy controls


Data Set IDType of DataCriteriaRelease Date
hum0076.v1 GWAS Un-restricted Access 2016/10/05

*Release Note 





487 PBCs

476 healthy controls

Targets genome wide SNPs
Target Loci for Capture Methods -
Platform Affymetrix [Axiom Genome-Wide ASI 1 Array]
Library Source gDNA extracted from peripheral blood cells
Cell Lines -
Reagents (Kit, Version) AXIOM 2.0 Reagent Kit
Genotype Call Methods (software) GenCall software (Genotyping Console ver.
Filtering Methods Sample Call rate < 0.97, SNP call rate < 0.95, HWE P < 0.001, MAF < 0.05
Marker Number (after QC) 425,736 SNPs (hg19)
NBDC Data Set ID


(Click the Data Set ID to download the file)

Dictionary file

Total Data Volume

55 MB

Comments (Policies) NBDC policy

*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: Minoru Nakamura

Affiliation: Clinical Research Center, National Hospital Organization (NHO) Nagasaki Medical Center

Project / Group Name: PBC Consortium in Japan (PBCCJP)

Funds / Grants (Research Project Number):

NameTitleProject Number
KAKENHI Grant-in-Aid for Scientific Research (C) New clinical classification and the criteria for predicting long-term outcome in primary biliary cirrhosis 20590800
KAKENHI Grant-in-Aid for Scientific Research (C) Genome-wide association study to detect disease-associated genes in Japanese patients with primary biliary cirrhosis 23591006



TitleDOIData Set ID
1 Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population doi: 10.1016/j.ajhg.2012.08.010 hum0076.v1.gwas.v1