Microbiome epidemiology and association studies in human health

• Published in: Nature reviews. Genetics 2023-02, Vol.24 (2), p.109-124
• Main Authors: VanEvery, Hannah, Franzosa, Eric A., Nguyen, Long H., Huttenhower, Curtis
• Format: Article
• Language: English
• Subjects: 631/208/205; 631/208/212/2142; 631/208/325; 631/326; Agriculture; Animal Genetics and Genomics; Biomedical and Life Sciences; Biomedicine; Cancer Research; Epidemiology; Gene Function; Genetic variability; Genome-wide association studies; Genome-Wide Association Study; Genomes; High-Throughput Nucleotide Sequencing; Human Genetics; Humans; Microbiomes; Microbiota - genetics; Next-generation sequencing; Review Article
• ISSN: 1471-0056; 1471-0064
• DOI: 10.1038/s41576-022-00529-x

Studies of the human microbiome share both technical and conceptual similarities with genome-wide association studies and genetic epidemiology. However, the microbiome has many features that differ from genomes, such as its temporal and spatial variability, highly distinct genetic architecture and person-to-person variation. Moreover, there are various potential mechanisms by which distinct aspects of the human microbiome can relate to health outcomes. Recent advances, including next-generation sequencing and the proliferation of multi-omic data types, have enabled the exploration of the mechanisms that connect microbial communities to human health. Here, we review the ways in which features of the microbiome at various body sites can influence health outcomes, and we describe emerging opportunities and future directions for advanced microbiome epidemiology. Microbiome epidemiology associates microbial community features with health outcomes, traits or exposures in human host populations. In this Review, the authors discuss ways in which various microbiome features at varying levels of resolution (community, strain, pathway or gene) influence human health using established examples of microbiome-associated changes linked with host outcomes.