NR1H4 analysis in patients with progressive familial intrahepatic cholestasis, drug-induced cholestasis or intrahepatic cholestasis of pregnancy unrelated to ATP8B1, ABCB11 and ABCB4 mutations.

Summary Farnesoid X receptor (FXR, NR1H4 ) controls bile acid homeostasis. NR1H4 variants may predispose to intrahepatic cholestasis of pregnancy (ICP). We report on NR1H4 analysis in eight patients with progressive familial intrahepatic cholestasis (PFIC) and in eight women with either ICP and/or drug-induced cholestasis (DIC) in whom no disease causing mutation in ATP8B1 , ABCB11 and/or ABCB4 were found. No NR1H4 mutation was found in PFIC patients. In one woman with ICP/DIC, a NR1H4 heterozygous variant (c.-1G>T) was found. This suggests that a NR1H4 mutation is not or rarely involved in hepatocellular cholestasis of unknown cause.