Human genetic variation and the gut microbiome in disease

Nat Rev Genet. 2017 Nov;18(11):690-699. doi: 10.1038/nrg.2017.63. Epub 2017 Aug 21.


Taxonomic and functional changes to the composition of the gut microbiome have been implicated in multiple human diseases. Recent microbiome genome-wide association studies reveal that variants in many human genes involved in immunity and gut architecture are associated with an altered composition of the gut microbiome. Although many factors can affect the microbial organisms residing in the gut, a number of recent findings support the hypothesis that certain host genetic variants predispose an individual towards microbiome dysbiosis. This condition, in which the normal microbiome population structure is disturbed, is a key feature in disorders of metabolism and immunity.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Dysbiosis* / genetics
  • Dysbiosis* / microbiology
  • Gastrointestinal Microbiome* / genetics
  • Genetic Variation*
  • Humans