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迈向全球组学路线图:组学技术入门

Toward a road map for global -omics: a primer on -omic technologies.

作者信息

Coughlin Steven S

机构信息

Department of Epidemiology, Rollins School of Public Health, Emory University, 1432 Central Avenue, No. 910, Memphis, TN.

出版信息

Am J Epidemiol. 2014 Dec 15;180(12):1188-95. doi: 10.1093/aje/kwu262. Epub 2014 Nov 18.

DOI:10.1093/aje/kwu262
PMID:25409464
Abstract

As highlighted in a recent editorial in the Journal (Am J Epidemiol. 2014;180(2):127-128), the research area of "-omics" includes genomics, proteomics, metabolomics, and nascent fields of scientific inquiry such as epigenomics and exposomics. These fields can be collectively referred to as "global -omics." Increasing efforts have been made over the past 2 decades to identify and modify environmental risk factors among persons who are susceptible to disease because of their genotype and to integrate genetic information and other biological variables with information about individual-level risk factors and group-level or societal factors related to the broader residential, behavioral, or cultural context. In genome-wide association studies, only a small proportion of heritability is explained by genetic variants identified to date, which has prompted researchers in bioinformatics and biostatistics to take into account nonlinear relationships due to gene-environment or gene-gene interactions. The exposome, which is dynamic and variable, consists of all of the internal and external exposures an individual incurs over a lifetime. Both the epigenome and exposome change with age. The prenatal and perinatal periods are thought to be important times for epigenetic marking. Once the human epigenome has been fully mapped, identification of the effects of all deleterious environmental exposures according to duration of exposure and time period will be a complex undertaking, requiring collaborative epidemiologic studies.

摘要

正如《美国流行病学杂志》(Am J Epidemiol. 2014;180(2):127 - 128)近期一篇社论所强调的,“组学”研究领域包括基因组学、蛋白质组学、代谢组学以及诸如表观基因组学和暴露组学等新兴科学探究领域。这些领域可统称为“全球组学”。在过去20年里,人们加大了努力,以识别和改变因基因型而易患疾病的人群中的环境风险因素,并将遗传信息和其他生物变量与个体层面的风险因素以及与更广泛的居住、行为或文化背景相关的群体层面或社会因素信息整合起来。在全基因组关联研究中,迄今所识别的基因变异仅解释了一小部分遗传力,这促使生物信息学和生物统计学领域的研究人员考虑基因 - 环境或基因 - 基因相互作用导致的非线性关系。暴露组是动态且多变的,由个体一生中所遭受的所有内部和外部暴露组成。表观基因组和暴露组都会随年龄变化。产前和围产期被认为是表观遗传标记的重要时期。一旦人类表观基因组被完全绘制出来,根据暴露持续时间和时间段识别所有有害环境暴露的影响将是一项复杂的任务,需要开展协作性的流行病学研究。

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