Metagenome-wide association studies: fine-mining the microbiome

Nat Rev Microbiol. 2016 Aug;14(8):508-22. doi: 10.1038/nrmicro.2016.83. Epub 2016 Jul 11.


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.

Publication types

  • Review

MeSH terms

  • Arthritis, Rheumatoid / diagnosis
  • Arthritis, Rheumatoid / microbiology
  • Arthritis, Rheumatoid / prevention & control
  • Bacteria / genetics*
  • Colorectal Neoplasms / diagnosis
  • Colorectal Neoplasms / microbiology
  • Colorectal Neoplasms / prevention & control
  • Diabetes Mellitus, Type 2 / diagnosis
  • Diabetes Mellitus, Type 2 / microbiology
  • Diabetes Mellitus, Type 2 / prevention & control
  • Gastrointestinal Tract / microbiology
  • Genome-Wide Association Study*
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Liver Cirrhosis / diagnosis
  • Liver Cirrhosis / microbiology
  • Liver Cirrhosis / prevention & control
  • Metagenome*
  • Microbiota*
  • Obesity / diagnosis
  • Obesity / microbiology
  • Obesity / prevention & control
  • RNA, Ribosomal, 16S / genetics
  • ROC Curve


  • RNA, Ribosomal, 16S