Gauguier Dominique
Sorbonne Universities, University Pierre & Marie Curie, University Paris Descartes, Sorbonne Paris Cité, INSERM UMR_S 1138, Cordeliers Research Centre, 75006 Paris, France; Institute of Cardiometabolism and Nutrition (ICAN), University Pierre & Marie Curie, 91 boulevard de l'Hôpital, 75013 Paris, France.
Arch Biochem Biophys. 2016 Jan 1;589:158-67. doi: 10.1016/j.abb.2015.09.016. Epub 2015 Sep 25.
Genome-wide association studies (GWAS) have provided remarkable advances in our understanding of the etiology of complex diseases in humans and have underlined the need to improve patients' phenotype characterization with intermediate molecular phenotypes. High resolution metabolomics is becoming an increasingly popular and robust strategy for metabolic phenotyping large cohorts of patients and controls in genetic studies, in order to map the genetic control of metabotypes in various biological matrices (organ extracts and biofluids) through Quantitative Trait Locus (mQTL) analysis. This article reviews results from ongoing research in mQTL mapping in rodent models of human complex traits, with a specific focus on the cardiometabolic syndrome, and prospects of applications of untargeted metabolomics to improve knowledge of multilevel genome expression control in health and disease and to detect potential novel biomarkers for complex phenotypes in experimental systems in mice and rats.
全基因组关联研究(GWAS)在我们对人类复杂疾病病因的理解方面取得了显著进展,并强调了利用中间分子表型改善患者表型特征描述的必要性。高分辨率代谢组学正日益成为一种流行且强大的策略,用于在基因研究中对大量患者和对照进行代谢表型分析,以便通过数量性状基因座(mQTL)分析来绘制各种生物基质(器官提取物和生物流体)中代谢型的遗传控制图谱。本文综述了在人类复杂性状的啮齿动物模型中进行mQTL定位的正在进行的研究结果,特别关注心脏代谢综合征,以及非靶向代谢组学在改善健康和疾病中多层次基因组表达控制知识以及检测小鼠和大鼠实验系统中复杂表型潜在新生物标志物方面的应用前景。