The UK genome-wide association study (GWAS) of PBC was completed in 2011, as part of the Wellcome Trust Case Control Consortium (WTCCC3).

In this study, the discovery panel consisted of genotype data for 507,467 SNPs across 1,840 cases and 5,163 population controls, all of British ancestry.

Cases were recruited via the UK-PBC Consortium and genotyped using the Illumina 660W-Quad array. Controls were obtained from the 1958 British Birth Cohort and the National Blood Service, genotyped using the Illumina Human1M-Duo as part of WTCCC2. The replication panel included 620 cases (also recruited via the UK-PBC Consortium) and 2,514 population controls obtained from Twins UK.

The study replicated association at seven established PBC risk loci and identified 12 additional PBC risk loci at genome-wide level of significance. A further three PBC risk loci were identified by meta-analysis of data from the UK GWAS of PBC and a previous GWAS of PBC by Liu X et al. The paper reporting this study was published in Nature Genetics, March 2011. The discovery dataset is available on request.


Manhattan plot from the UK GWAS of PBC