Please use this identifier to cite or link to this item: http://ahro.austin.org.au/austinjspui/handle/1/19660
Title: Human genomics of acute liver failure due to hepatitis B virus infection: an exome sequencing study in liver transplant recipients.
Authors: Asgari, Samira;Chaturvedi, Nimisha;Scepanovic, Petar;Hammer, Christian;Semmo, Nasser;Giostra, Emiliano;Müllhaupt, Beat;Angus, Peter W;Thompson, Alexander J;Moradpour, Darius;Fellay, Jacques
Affiliation: the University of Melbourne, Melbourne, Australia
Department for BioMedical Research, Hepatology, University of Bern, Switzerland
Department of Gastroenterology and Hepatology, Austin Health, Heidelberg, Victoria, Australia
Precision Medicine Unit, LaUSAnne University Hospital, LaUSAnne, Switzerland
Brigham and Women's Hospital, Harvard Medical School, Boston, USA
Department of Gastroenterology and Hepatology, Geneva University Hospital, Geneva, Switzerland
Department of Gastroenterology and Hepatology, University Hospital Zürich, Zürich, Switzerland
Department of Gastroenterology, St Vincent's Hospital and the University of Melbourne, Melbourne, Australia
Service of Gastroenterology and Hepatology, LaUSAnne University Hospital, LaUSAnne, Switzerland
School of Life Sciences, Ecole Polytechnique Fédérale de LaUSAnne, LaUSAnne, Switzerland
Swiss Institute of Bioinformatics, LaUSAnne, Switzerland
Issue Date: 13-Oct-2018
EDate: 2018-10-13
Citation: Journal of viral hepatitis 2018; online first: 13 October
Abstract: Acute liver failure (ALF) or fulminant hepatitis is a rare, yet severe outcome of infection with hepatitis B virus (HBV) that carries a high mortality rate. The occurrence of a life-threatening condition upon infection with a prevalent virus in individuals without known risk factors is suggestive of pathogen-specific immune dysregulation. In the absence of established differences in HBV virulence, we hypothesized that ALF upon primary infection with HBV could be due to rare deleterious variants in the human genome. To search for such variants, we performed exome sequencing in 21 previously healthy adults who required liver transplantation upon fulminant HBV infection and 172 controls that were positive for anti-HBc and anti-HBs but had no clinical history of jaundice or liver disease. After a series of hypothesis-driven filtering steps, we searched for putatively pathogenic variants that were significantly associated with case-control status. We did not find any causal variant or gene, a result that does not support the hypothesis of a shared monogenic basis for human susceptibility to HBV-related ALF in adults. This study represents a first attempt at deciphering the human genetic contribution to the most severe clinical presentation of acute HBV infection in previously healthy individuals. This article is protected by copyright. All rights reserved.
URI: http://ahro.austin.org.au/austinjspui/handle/1/19660
DOI: 10.1111/jvh.13019
PubMed URL: 30315682
Type: Journal Article
Subjects: Acute Liver Failure (ALF)
Exome sequencing
Fulminant hepatitis
Hepatitis B Virus (HBV)
Appears in Collections:Journal articles

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