Yige Sima

• Msci Biomedical Sciences
• Genome-wide association studies (GWAS) and post-GWAS analysis of studies of liver disease

The project is aiming to use statistical methodology include genome-wide association studies (GWAS) and post-GWAS analysis to identify risk loci (a fixed point on chromosome) contributed to Primary biliary cirrhosis (PBC), a rare autoimmune liver disease, which would potentially lead to development of new treatments. There were 27 risk loci discovered in previous research. This project will analyse a larger set of data from 3 groups of subjects, include 6971 UK people, 13848 Canadian people and 1512 Italian people, the goal is to identify new risk loci. The project identified of multiple risk loci across the genome including the HLA locus, which encodes molecules that play a key role in the immune system. Further investigations are needed in order to understand the functional effects of these risk loci and to improve knowledge of PBC pathogenesis.

Funding source: Newcastle University

Project supervisor: Professor Heather Cordell