An update on genetic analysis of cholestatic liver diseases: digging deeper.

[benign recurrent intrahepatic cholestasis]

Investigations into the molecular mechanisms of cholestasis have revealed intricate and intriguing details of bile salt metabolism as well as its regulatory mechanisms in health and disease . Extensive studies on genotype-phenotype correlations in monogenic diseases , such as progressive familial and benign recurrent intrahepatic cholestasis , facilitate diagnostics and improve the risk assessment of hepatobiliary transporter gene variants in bile transport pathophysiology . While the comparatively easy targets in monogenic cholestasis have been identified for some time now , progress in complex liver disease is rather laborious but steady . Genome-wide association scans are the next step in gathering information about common contributors towards polygenic (multifactorial ) cholestatic diseases . New determinants of bile salt metabolism affecting feedback loops within the liver or the enterohepatic circulation are presently under investigation for their contribution towards complex cholestatic syndromes .