The PBC Genetics Study
This is a UK-wide multicentre effort to establish a UK PBC Bioresource consisting of minimum 5000 unique PBC DNA samples, detailed phenotype information about each participant, and the facility to recall selected participants to provide blood and other samples for immunophenotyping and related studies. Samples from the UK PBC Bioresource were recently utilised in a highly successful genome-wide association study (GWAS) of PBC, which has identified several previously unreported risk loci for PBC. Ongoing recruitment is required to suitably power future studies to identify genetic loci which influence disease progression or confer risk of important sub-phenotypes, including pruritus and fatigue.
Almost all NHS Trusts in the UK are involved in this study and approximately 3500 PBC cases have been enrolled in the study. It is feasible to recruit a total of 5000 cases within 12 months, if clinicians remain enthusiastic. Please continue to support this project.