Open AccessCommon ABCB4 and ABCB11 genotypes are associated with idiopathic chronic cholestasis in adults
Author(s) -
Christoph Jüngst,
Christina Justinger,
Janett Fischer,
Thomas Berg,
Frank Lammert
Publication year - 2021
Publication title -
digestive diseases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.879
H-Index - 66
eISSN - 1421-9875
pISSN - 0257-2753
DOI - 10.1159/000518203
Subject(s) - medicine , cholestasis , gastroenterology , cholestasis of pregnancy , cohort , chronic liver disease , liver disease , cirrhosis , pregnancy , biology , genetics , fetus
Pathogenic mutations in genes encoding the hepatocanalicular transporters ATP8B1, ABCB11 and ABCB4 are causative for progressive cholestatic liver disease in children. In adults, less severe variants such as the common ABCB4 c.711A>T polymorphism have been associated with intrahepatic cholestasis in pregnancy and elevated liver enzymes. Hence, our aim was to study the role of common polymorphisms in adult patients with chronic unexplained cholestasis.