Genetics of Primary Biliary Cholangitis.

Primary biliary cholangitis (PBC) is a rare disease of the liver characterized by an autoimmune attack on the small bile ducts. PBC is a complex trait, meaning that a large list of genetic factors interacts with environmental agents to determine its onset. Genome-wide association studies have had a huge impact in fostering research in PBC, but many steps need still to be done compared with other autoimmune diseases of similar prevalence. This review presents the state-of-the-art regarding the genetic architecture of PBC and provides some thoughtful reflections about possible future lines of research, which can be helpful to fill the missing heritability gap in PBC.

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Disclosure A. Gerussi and P. Invernizzi are members of the European Reference Network on Hepatological Diseases (ERN RARE LIVER). The authors thank AMAF Monza ONLUS and AIRCS for the unrestricted research funding.