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Journal of Lipids
Volume 2012 (2012), Article ID 934707, 12 pages
Review Article

Nuclear Receptor Variants in Liver Disease

1Department of Medicine II, Saarland University Medical Center, 66421 Homburg, Germany
2Molecular Hepatology, Alcohol Associated Diseases, II. Medical Clinic Mannheim, 68167 Mannheim, Germany

Received 18 August 2011; Accepted 25 November 2011

Academic Editor: B. A. Neuschwander-Tetri

Copyright © 2012 Roman Müllenbach et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.


This review aims to provide a snapshot of the actual state of knowledge on genetic variants of nuclear receptors (NR) involved in regulating important aspects of liver metabolism. It recapitulates recent evidence for the application of NR in genetic diagnosis of monogenic (“Mendelian”) liver disease and their use in clinical diagnosis. Genetic analysis of multifactorial liver diseases such as viral hepatitis or fatty liver disease identifies key players in disease predisposition and progression. Evidence from these analyses points towards a role of NR polymorphisms in common diseases, linking regulatory networks to complex and variable phenotypes. The new insights into NR variants also offer perspectives and cautionary advice for their use as handles towards diagnosis and treatment.