In PBC, the liver disease is progressive in almost all cases but the rate of disease progression is highly variable. Some patients have aggressive disease that progresses rapidly to liver failure, while others have indolent disease and ultimately die from other causes. Factors that influence disease progression in PBC are unknown – preliminary results from our laboratory suggest that genetic factors might be important.
The aim of this project is to identify common genetic variants associated with disease progression by undertaking genome-wide time-to-event analysis, in which the ‘event’ is represented by liver transplant or death for liver failure.
Discovery analysis will be undertaken using the UK-PBC Cohort. The top-scoring variants at genome-wide significant loci will be taken forward for genotyping in replication cohorts recruited from Italy and the USA.
For further information about this study, please contact George Mells.