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Exposome x Genome


Over the past several decades, genomic analyses (e.g., genome-wide association studies, genome-wide sequencing, functional genomics, epigenomics, and biochemical networks) have enabled unparalleled elucidation of genotype-phenotype associations, which greatly improve our understanding of the pathogenesis of human diseases. However, the identified genetic or epigenetic variants explain only a small proportion of the heritability of most complex diseases. The unexplained fraction could be partly due to the impacts of the large number of exposures, the gene-environment (G×E) interactions, or the more complex pathways and targets. The “exposome” concept was then coined by Christopher Wild in 2005 to provide an environmental analogy of the genome, referring to the comprehensive assessment of multiple joint environmental exposures that occur at different life-stages. Targeted and untargeted exposure analyses and omics techniques coupled to an expanding range of methods for personal exposure monitoring and big data analyses are deeply expanding the capabilities of simultaneous measurements of millions of genome variants with thousands of modifiable exposome factors. It significantly increased the number of possible factor pairs available for determining for the presence of interactions, which are responsible for physiological disorders (e.g., aging or chronic diseases). However, the potential interactions between the multiplicity of exposures and genes has been less extensively studied and still represents a largely unexplored practical and theoretical challenges.

Herein, we encourage contributions to this topic from a broad coverage of disciplines including but not limited to exposure assessment science, epidemiology, environmental sciences, genomics, epigenomics, metabolomics, biostatistics, bioinformatics, environmental health, toxicology, and precision medicine. Specifically,

  • Innovative tools for assessing the exposome
  • Accessing the interplays between the dimensions of the exposome and the genetic background on human health
  • Newly identified exposure and effect biomarkers
  • Advanced methodologies for evaluating high-dimensional datasets of multiple correlated exposures, mixture effects, and disease susceptibility
  • Future directions of exposome and genome research

Guest Editors

Xiaoming Shi, M.D., Ph.D.,
National Institute of Environmental Health
Chinese Center for Disease Control and Prevention

Nikolaos S. Thomaidis, Ph.D.
Laboratory of Analytical Chemistry
Department of Chemistry, University of Athens

  1. The human exposome is composed of diverse metabolites and small chemical compounds originated from endogenous and exogenous sources, respectively. Genetic and environmental factors influence metabolite levels,...

    Authors: In-Hee Lee, Matthew Ryan Smith, Azam Yazdani, Sumiti Sandhu, Douglas I. Walker, Kenneth D. Mandl, Dean P. Jones and Sek Won Kong
    Citation: Human Genomics 2022 16:67