Müllenbach Roman, Weber Susanne N, Lammert Frank
Department of Medicine II, Saarland University Medical Center, 66421 Homburg, Germany.
J Lipids. 2012;2012:934707. doi: 10.1155/2012/934707. Epub 2011 Dec 21.
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.
本综述旨在概述核受体（NR）基因变异在调节肝脏代谢重要方面的实际知识现状。它总结了NR在单基因（“孟德尔式”）肝病基因诊断中的应用以及在临床诊断中的应用的最新证据。对病毒性肝炎或脂肪性肝病等多因素肝病的基因分析确定了疾病易感性和进展中的关键因素。这些分析的证据表明NR多态性在常见疾病中的作用，将调控网络与复杂多变的表型联系起来。对NR变异的新见解也为其在诊断和治疗中的应用提供了前景和警示建议。
