Purpose of review: Chronic biliary diseases are due to complex interactions between environmental and genetic factors. Here we summarize the current knowledge of genetic factors that contribute to common biliary diseases, focusing on gallstones and carcinogenesis, and review the recent association studies.
Recent findings: Since most studies were based on small sample sizes, replication of the findings is mandatory. Recently a large twin study confirmed a genetic predisposition to gallstones and a genome-wide association scan identified the hepatocanalicular cholesterol transporter ABCG8 as the common susceptibility factor for gallstone disease. Genetic studies in patients with cholangiocarcinoma indicate that genes controlling the metabolism and transport of xenobiotics or modulating chronic inflammation may determine individual susceptibility.
Summary: Genetic studies have identified the first susceptibility factors for gallstones and biliary tract cancers, but most results have yet to be replicated. In the future, genome-wide studies in different populations are likely to identify the entire set of genes contributing to chronic biliary diseases. Since the disease phenotypes result from the manifestation of susceptibility factors under the influence of environmental triggers, the discovery of these genes will open avenues to control environmental challenges and lead to novel strategies for risk assessment ('gene signatures') and prevention.