PMID: 25332267

Seyfarth HJ, Favreau N, Tennert C, Ruffert C, Halank M, Wirtz H, Mossner J, Rosendahl J, Kovacs P, Wittenburg H
Genetic susceptibility to hepatoxicity due to bosentan treatment in pulmonary hypertension.
Ann Hepatol. 2014 Nov-Dec;13(6):803-9., [PubMed]
Sentences
No. Mutations Sentence Comment
42 ABCB11 p.Val444Ala
X
ABCB11 p.Val444Ala 25332267:42:51
status: NEW
view ABCB11 p.Val444Ala details
 One common variant of the ABCB11 gene (rs228762, p.V444A) leads to lower BSEP expression levels and is associated with drug induced liver injury from various drugs.15 The major transcription factor for ABCB11 is the nuclear bile salt receptor FXR, encoded by the NR1H4 gene.16 A polymorphism of NR1H4 (rs56163822, c.1G/T) was previously confirmed to influence transcription.17 Interestingly, a recent study suggested protection against acetaminophen-induced liver injury from activation of FXR.18 In the current study, we systematically investigated genetic variants of CYP2C9, ABCB11 and NR1H4 as possible genetic risk factors for the development of cholestasis in PH patients during treatment with bosentan. Login to comment