推进转化暴露组学:桥接基因组,暴露体和个性化医疗。

IF 3.8 3区 医学 Q2 GENETICS & HEREDITY
Dimosthenis Sarigiannis, Spyros Karakitsios, Ourania Anesti, Arthur Stem, Damaskini Valvi, Susan C J Sumner, Leda Chatzi, Michael P Snyder, David C Thompson, Vasilis Vasiliou
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引用次数: 0

摘要

了解遗传易感性与环境和生活方式暴露之间的相互作用对于推进精准医疗和公共卫生至关重要。暴露量被定义为个人一生中遇到的所有环境暴露的总和,它通过阐明外部和内部暴露因素如何影响健康结果来补充基因组数据。这篇论文强调了整合暴露组学和基因组学的翻译暴露组学的新兴学科,提供了一种全面的方法来破译环境和生活方式暴露、遗传变异性和疾病表型之间的复杂关系。我们重点介绍了尖端的方法,包括多组学技术、全暴露关联研究(EWAS)、基于生理学的生物动力学建模和先进的生物信息学方法。这些工具能够精确表征外部和内部暴露,促进生物标志物的识别,暴露-反应关系,疾病预测和机制。我们还考虑在环境卫生研究中解决社会经济、人口和性别差异的重要性。我们强调暴露数据如何能够将基因组变异置于背景中并加强因果推理,特别是在易感人群和复杂疾病的研究中。通过展示具体的例子和提出转化暴露组学的综合平台,这项工作强调了连接基因组学和暴露组学的关键需要,以实现精确预防、风险分层和公共卫生决策。这种综合方法为理解健康和疾病提供了一个新的范例,而不仅仅是遗传学。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Advancing translational exposomics: bridging genome, exposome and personalized medicine.

Understanding the interplay between genetic predisposition and environmental and lifestyle exposures is essential for advancing precision medicine and public health. The exposome, defined as the sum of all environmental exposures an individual encounters throughout their lifetime, complements genomic data by elucidating how external and internal exposure factors influence health outcomes. This treatise highlights the emerging discipline of translational exposomics that integrates exposomics and genomics, offering a comprehensive approach to decipher the complex relationships between environmental and lifestyle exposures, genetic variability, and disease phenotypes. We highlight cutting-edge methodologies, including multi-omics technologies, exposome-wide association studies (EWAS), physiology-based biokinetic modeling, and advanced bioinformatics approaches. These tools enable precise characterization of both the external and the internal exposome, facilitating the identification of biomarkers, exposure-response relationships, and disease prediction and mechanisms. We also consider the importance of addressing socio-economic, demographic, and gender disparities in environmental health research. We emphasize how exposome data can contextualize genomic variation and enhance causal inference, especially in studies of vulnerable populations and complex diseases. By showcasing concrete examples and proposing integrative platforms for translational exposomics, this work underscores the critical need to bridge genomics and exposomics to enable precision prevention, risk stratification, and public health decision-making. This integrative approach offers a new paradigm for understanding health and disease beyond genetics alone.

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来源期刊
Human Genomics
Human Genomics GENETICS & HEREDITY-
CiteScore
6.00
自引率
2.20%
发文量
55
审稿时长
11 weeks
期刊介绍: Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.
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