Metagenome-wide association studies (MWAS) have enabled the high-resolution investigation of associations between the human microbiome and several complex diseases, including type 2 diabetes, obesity, liver cirrhosis, colorectal cancer and rheumatoid arthritis. The associations that can be identified by MWAS are not limited to the identification of taxa that are more or less abundant, as is the case with taxonomic approaches, but additionally include the identification of microbial functions that are enriched or depleted. In this Review, we summarize recent findings from MWAS and discuss how these findings might inform the prevention, diagnosis and treatment of human disease in the future. Furthermore, we highlight the need to better characterize the biology of many of the bacteria that are found in the human microbiota as an essential step in understanding how bacterial strains that have been identified by MWAS are associated with disease.
At a glance
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The first MWAS, which establishes the MLG method and identifies associations between the gut microbiome and type 2 diabetes.
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This paper details the first gene catalogue for the gut microbiome of laboratory mice, which reports differences from the human gut microbiome as well as between mice.
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This study reports the use of MGSs to assemble genomes, 238 of which met the Human Microbiome Project (HMP) high-quality draft genome standard.
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