Intrahepatic cholestasis: Analysis of genetic variants in an European cohort

Aims: Bile flow is maintained by hepatobiliary ATP-dependent transport proteins. ABCB11 (BSEP) exports bile acids, ABCB4 (MDR3) flops phosphatidylcholine and ATP8B1 maintains the correct phospholipid composition of the canalicular membrane. Dysfunction of these proteins, or genes regulating their expression (e.g. farnesoid X receptor, FXR), can lead to cholestatic disorders (known as BRIC or PFIC). Here we present the results of genetic testing as performed in our tertiary referral centre in the period from 2000–2011. Methods: We genotyped 198 pregnant women (age range 17–46 years) with suspected intrahepatic ch…