Heinig Matthias
Institute of Computational Biology, Helmholtz Zentrum München German Research Center for Environmental Health, Neuherberg, Germany.
Department of Informatics, Technical University of Munich, Munich, Germany.
Front Cardiovasc Med. 2018 Jun 5;5:59. doi: 10.3389/fcvm.2018.00059. eCollection 2018.
Genetic variants at hundreds of loci associated with cardiovascular phenotypes have been identified by genome wide association studies. Most of these variants are located in intronic or intergenic regions rendering the functional and mechanistic follow up difficult. These non-protein-coding regions harbor regulatory sequences. Thus the study of genetic variants associated with transcription-so called expression quantitative trait loci-has emerged as a promising approach to identify regulatory sequence variants. The genes and pathways they control constitute candidate causal drivers at cardiovascular risk loci. This review provides an overview of the expression quantitative trait loci resources available for cardiovascular genetics research and the most commonly used approaches for candidate gene identification.
全基因组关联研究已经确定了数百个与心血管表型相关的基因座上的遗传变异。这些变异大多数位于内含子或基因间区域，使得功能和机制的后续研究变得困难。这些非蛋白质编码区域含有调控序列。因此，对与转录相关的遗传变异（即所谓的表达数量性状基因座）的研究已成为识别调控序列变异的一种有前景的方法。它们所控制的基因和途径构成了心血管风险基因座上的候选因果驱动因素。本综述概述了可用于心血管遗传学研究的表达数量性状基因座资源以及用于候选基因鉴定的最常用方法。
