Nuclear Receptor Variants in Liver Disease. (15th March 2012)

• Record Type: Journal Article
• Authors: Müllenbach, Roman; Weber, Susanne N.; Lammert, Frank
• Other Names: Neuschwander-Tetri B. A. Academic Editor.
• Is Part Of: Journal of lipids. Volume 2012(2012)
• Publication Date: 2012-03-15
• Subjects: Lipids -- Periodicals; Lipids; Lipids; Electronic journals; Periodicals; Periodicals; 572.57
• DOI: 10.1155/2012/934707
• Languages: English
• ISSNs: 2090-3030

Abstract

Abstract : 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.