Genetics of autoimmune liver disease: a brief summary for clinicians

Autoimmune liver diseases are rare chronic immune-mediated liver injuries in which the consequences of hepatic and biliary inflammation are cirrhosis and end-stage liver disease. Epidemiological surveys of individuals, families and populations strongly support a model of disease for which environmental and genetic influences are highly relevant to why any individual develops disease. The overlapping clinical presentations of primary biliary cirrhosis, primary sclerosing cholangitis and autoimmune hepatitis further highlight the likelihood for shared pathways to disease. Of late, the application of high-throughput genetic technology, paralleled by large patient cohort development, has led to new insights into the nature of the host genetic risk. This risk is now robustly demonstrable for the HLA locus as well as in various non-HLA loci and is summarized in this brief review article.