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Study Description

A Genome-wide association study of primary biliary cirrhosis (PBC) with an Italian cohort and loci meeting suggestive criteria were confirmed using a replication dataset from a previous Canadian study. The results confirmed associations for IL12A, IL12RB2, and HLA (peak between DQA1 and DQB1) and identified novel associations with IKZF3/ORMDL3 on chromosome 17, SPIB on chromosome 19, and IRF5 on chromosome. These studies also provided definition of haplotypic associations, differences between the PBC associated chromosome 17 haplotype and that of pediatric asthma and suggested several other genes as candidates for PBC susceptibility including DENND1B.

  • Study Type: Case-Control
  • Number of study subjects that have individual level data available through Authorized Access: 1389

Authorized Access
Publicly Available Data (Public ftp)

Connect to the public download site. The site contains release notes and manifests. If available, the site also contains data dictionaries, variable summaries, documents, and truncated analyses.

Study Inclusion/Exclusion Criteria

All PBC cases met accepted international criteria for the diagnosis of PBC, including a cholestatic pattern of serum biochemistry for >6 months and liver histology compatible with or diagnostic of PBC. The majority of controls had no known history of any autoimmune disease. All cases and controls were unrelated and met identity-by-state criteria for excluding first and second degree relatives. All subjects had Italian ancestry as estimated by principal component analyses.

Molecular Data
TypeSourcePlatformNumber of Oligos/SNPsSNP Batch IdComment
Whole Genome Genotyping Illumina Human610_Quadv1_B 601273 1048904
Whole Genome Genotyping Illumina HumanHap550v3.0 561466 51468
Whole Genome Genotyping Illumina Human1M-Duov3_B 1185051 1049348
Selected publications
Diseases/Traits Related to Study (MESH terms)
Links to Other NCBI Resources
Authorized Data Access Requests
Study Attribution
  • Principal Investigator
    • Merrill Eric Gershwin, MD. University California Davis, Davis, CA, USA
  • Funding Source
    • R01 DK056839. National Institutes of Health, Bethesda, MD, USA