The occurrence and development of human diseases are influenced by both genetic and environmental factors. Research models that describe disease occurrence only from the perspective of genetics present certain limitations. In recent years, effects of environment factors on the occurrence and development of diseases have attracted extensive attentions. Exposomics focuses on the measurement of all exposure factors in an individual's life and how these factors are related to disease development. Exposomics provides new ideas to promote studies on the relationship between human health and environmental factors. Environmental exposures are characterized with different physical and chemical properties, as well as very low concentrations in vivo, which contribute great challenges in the comprehensive measurement of chemical residues in the human body. Chromatography-mass spectrometry-based technologies combine the high-efficiency separation ability of chromatography with the high resolution and sensitive detection characteristics of mass spectrometry; the combination of these techniques can achieve the high-coverage, high-throughput, and sensitive detection of environmental exposures, thus providing a powerful tool for measuring chemical exposures. Exposomics-analysis methods based on chromatography-mass spectrometry mainly include targeted quantitative analysis, suspect screening, and non-targeted screening. To explore the relationship between environmental exposure and the occurrence and development of diseases, researchers have developed research paradigms, including exposome wide association study, mixed-exposure study, exposomics and multi-omics (genome, transcriptome, proteome, metabolome)-association study, and so on. The emergence of these methods has brought about unprecedented developments in exposomics studies. In this manuscript, analytical methods based on chromatography-mass spectrometry, exposomics research paradigms, and their relevant prospects are reviewed.
人类疾病的发生、发展受环境因素和遗传因素的共同影响,仅从遗传基因角度开展研究,不能有效地揭示疾病的发生机制,因而近年来环境因素对疾病发生、发展的影响受到了学界的广泛关注。暴露组学关注个体一生中所有暴露因素的测量,以及这些暴露因素与疾病建立联系的机制,为推动人类健康与环境因素之间的关系研究提供了新思路。由于外源性化学物质具有数量众多、理化性质各异、在体内含量极低等特性,对其进行测量会面临诸多挑战。基于色谱-质谱联用的暴露组分析技术兼具色谱的高效分离能力和质谱的高分辨率、高灵敏度特性,可以实现暴露组的高覆盖、高通量、高灵敏度检测,已成为暴露组学研究的主要分析技术。基于色谱-质谱联用的暴露组学分析方法主要包括靶向定量分析、可疑物筛查和非靶向筛查。除此之外,为了探究环境暴露与疾病发生、发展的关系,研究者发展了包括暴露组关联研究、混合暴露研究以及暴露组学与多组学(基因组学、转录组学、蛋白质组学、代谢组学)关联研究等的多种研究范式,这些方法的出现为暴露组学研究带来了空前的发展前景。本文综述了基于色谱-质谱联用技术的暴露组学分析方法和暴露组学研究范式,并对暴露组学的未来发展进行了展望。
Keywords: chromatography-mass spectrometry; exposomics; metabolomics; multi-omics association study; review.