The common bile salt transporter polymorphism ABCB11C.1331T>C is associated with HCV infection but not with increased liver stiffness in a german cohort: Mechanistical implications
R Müllenbach, S Weber, V Zimmer, M Krawczyk, F Lammert, F Grünhage · Zeitschrift für Gastroenterologie · 2011 · Heft 01
Bibliografische Angaben
Zusammenfassung
The hepatocanalicular bile salt export pump BSEP (ABCB11) is the central transporter of bile acids from hepatocytes into bile canaliculi. Homozygous inactivations cause progressive familial cholestasis type 2 (PFIC2) resulting in end-stage liver disease, fibrosis and cirrhosis. The frequent sequence variant ABCB11 c.1331T>C (p.V444A) has been associated with different serum bile acid levels. Homozygosity for the [C]-allele causes a threefold increase in the risk of developing intrahepatic cholestasis of pregnancy (ICP). The aim of our study was to investigate a potential correlation between ABCB11c.1331T>C and l…