Abstract
庞元捷,吕筠,余灿清,孙点剑一,李立明.多组学在慢性病病因学研究中的应用及其进展[J].Chinese journal of Epidemiology,2021,42(1):1-9
多组学在慢性病病因学研究中的应用及其进展
A multi-omics approach to investigate the etiology of non-communicable diseases: recent advance and applications
Received:December 01, 2020  
DOI:10.3760/cma.j.cn112338-20201201-01370
KeyWord: 多组学数据  整合组学  系统流行病学  精准医学  慢性病流行病学
English Key Word: Multi-omics  Integromics  Systems epidemiology  Precision medicine  Chronic disease epidemiology
FundProject:国家自然科学基金(91846303);中国博士后科学基金(2019TQ0008,2020M670071)
Author NameAffiliationE-mail
Pang Yuanjie School of Public Health, Peking University/Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China  
Lyu Jun School of Public Health, Peking University/Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China  
Yu Canqing School of Public Health, Peking University/Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China  
Sun Dianjianyi School of Public Health, Peking University/Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China  
Li Liming School of Public Health, Peking University/Peking University Center for Public Health and Epidemic Preparedness & Response, Beijing 100191, China lmlee@bjmu.edu.cn 
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Abstract:
      慢性病流行病学的主要目的之一是探索疾病病因。多组学通常包括在脱氧核糖核酸复制、转录、翻译、翻译后修饰的过程中,产生的全部基因(基因组学)、基因表达的广泛变化(表观遗传组学)、核糖核酸(转录组学)和蛋白质(蛋白质组学),以及下游的小分子代谢产物(代谢组学)。多组学检测技术为包括基因组、转录组、蛋白质组在内的组学测定提供技术支持,系统流行病学为利用多组学开展病因研究提供理论与方法支持。多组学研究既揭示了分子间的相互作用网络,又从微观病因学层面有助于因果推断。随着国际公开数据、分析平台与协作组的指数级增长,多组学研究资源将更加丰富,所研究的深度与广度也将得到大幅扩展。本文将详细介绍多组学在慢性病病因学研究中的应用及近三年的研究进展、多组学对慢性病流行病学研究的意义和价值、为大规模队列研究带来的机遇与挑战、中国在多组学病因学研究的优势与问题及多组学研究展望。
English Abstract:
      One of the main aims of chronic disease epidemiology is to explore the etiological factors of diseases. Multi-omics includes all genes (genomics), extensive changes in gene expression (epigenetics), ribonucleic acids (transcriptomics), and proteins (proteomics) generated during the process of DNA replication, transcription, translation, and post-translational modification, as well as small molecule metabolites downstream (metabolomics). Multi-omics platforms provide technical support for assessing omics biomarkers including genomics, transcriptomics, and proteomics, while systems epidemiology provides theoretical and methodological support for using multi-omics to conduct etiological research. Multi-omics research not only reveals the interaction network between molecules, but also contributes to causal inference from the molecular level. With the global exponential growth of publicly available data, analysis platforms, and consortia, resources for multi-omics research will become more abundant, and the depth and breadth of research will be greatly expanded. This article will review the applications of multi-omics approach in the etiologic research on non-communicable diseases, representative research in the past three years, opportunities and challenges for large-scale cohort studies, advantages and issues of multi-omics research in the Chinese population, and future perspectives.
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