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精准医学中定量性状基因座的多组学视角

A Multi-Omics Perspective of Quantitative Trait Loci in Precision Medicine.

机构信息

Department of Biochemistry and Molecular Biology, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX 77030, USA; Shanghai Institute of Immunology, Faculty of Basic Medicine, Shanghai Jiao Tong University School of Medicine, Shanghai, 200025, China.

Department of Biochemistry and Molecular Biology, McGovern Medical School at The University of Texas Health Science Center at Houston, Houston, TX 77030, USA.

出版信息

Trends Genet. 2020 May;36(5):318-336. doi: 10.1016/j.tig.2020.01.009. Epub 2020 Feb 24.

Abstract

Quantitative trait loci (QTL) analysis is an important approach to investigate the effects of genetic variants identified through an increasing number of large-scale, multidimensional 'omics data sets. In this 'big data' era, the research community has identified a significant number of molecular QTLs (molQTLs) and increased our understanding of their effects. Herein, we review multiple categories of molQTLs, including those associated with transcriptome, post-transcriptional regulation, epigenetics, proteomics, metabolomics, and the microbiome. We summarize approaches to identify molQTLs and to infer their causal effects. We further discuss the integrative analysis of molQTLs through a multi-omics perspective. Our review highlights future opportunities to better understand the functional significance of genetic variants and to utilize the discovery of molQTLs in precision medicine.

摘要

数量性状基因座(QTL)分析是一种重要的方法,可用于研究通过越来越多的大规模、多维“组学”数据集鉴定的遗传变异的影响。在这个“大数据”时代,研究界已经确定了大量的分子数量性状基因座(molQTLs),并增加了我们对它们的影响的理解。在这里,我们回顾了多种类型的 molQTLs,包括与转录组、转录后调控、表观遗传学、蛋白质组学、代谢组学和微生物组相关的 molQTLs。我们总结了鉴定 molQTLs 并推断其因果效应的方法。我们进一步讨论了通过多组学视角对 molQTLs 的综合分析。我们的综述强调了未来有机会更好地理解遗传变异的功能意义,并利用 molQTLs 的发现来进行精准医学。

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