暴露组学的概念与应用  

Exposome and exposomics: from concepts to application

作　　者：白志鹏[1] 陈莉[2,1] 韩斌[1] 

机构地区：[1]中国环境科学研究院环境基准与风险评估国家重点实验室,北京100012 [2]天津师范大学

出　　处：《环境与健康杂志》2015年第1期1-9,共9页Journal of Environment and Health

基　　金：国家重点基础研究发展计划(973计划)项目(2011CB503801)

摘　　要：暴露组学作为基因组学的补充是指从妊娠开始贯穿整个人生的环境暴露(包括生活方式因素)。暴露源包括外源(污染、辐射、饮食等)和内源(炎症、感染、微生物等)。继全基因组关联研究(GWAS)之后发展的全暴露组关联研究(EWAS)的目的是对在未知方式下暴露的评估。EWAS方法通过比较患者和健康受试者暴露组的分析结果,确定有效的生物标志物,进而利用这些生物标志物来阐明暴露-效应关系(生化流行病学)、暴露和人体动力学来源(暴露生物学),以及作用机制(系统生物学)。"自下而上"和"自上而下"的方法在识别个体暴露上都具有科学价值。"自上而下"法用于揭示人类疾病的未知暴露源,而"自下而上"法是用于分析外暴露以及建立干预与预防的方法。生物标志物不仅可以用于研究外暴露,也可以用于研究内暴露。内暴露组学采用组学的方法进行研究,如基因组学、蛋白质组学、表观基因组学、代谢组学、转录组学、加合物组学等。人类生命早期暴露组学(HELIX)项目是近期启动的描述欧洲人群的早期暴露以及揭示组学标志物和儿童时期健康关系的第一次尝试。该文介绍了其研究方法、工具、思路及其重要意义,同时总结了暴露组学从概念到应用可能面临的挑战。＂Exposome＂ as the environmental complement to the genome encompasses lifecourse environmental exposures （including lifestyle factors） from gestation onwards. Exposures include external sources （e.g., pollution, radiation and diet） and internal sources （e.g., inflammation, infection and the microbiome）. In parallel with the genome-wide association study （GWAS）, the exposome-wide association study （EWAS） aims to assess effects of the exposome in an agnostic manner. In one type of EWAS, levels or prevalence of exposure biomarkers is compared in cases and controls. It is hoped that by using such an approach that exposure （dose） - response relationships, organ system dynamics （exposure biology） and mechanisms （or modes） of action （systems biology） will be clarified. There is scientific value in both the bottom-up and top-down approaches for characterizing individual exposomes. The top-down （agnostic） approach aims at discovering unknown causes of human disease whereas the bottom-up approach utilizes more comprehensive analyses of exposures and methods for intervention and prevention. Biomarkers can be used to study not only external exposures, but internal exposures as well. The internal exposome is studied using -omic methods, such as genomics, proteomics, epigenomics, metabolomics, transcriptomics and adductomies. The Human Early Life Exposome project （HELIX） is one of the first attempts to describe the early life exposome of European populations and to unravel its relationship to -omies markers and health in childhood. The study methods, tools, ideas and significance of HELIX were introduced. Lastly, the challenges and issues of developing the exposome were discussed.

关 键 词：暴露组学 全暴露组关联研究 生物标志物 微生物组 基因组 

分 类 号：R181.3[医药卫生—流行病学]