Human and bacterial genetic variation shape oral microbiomes and health

Abstract Human genetic variation influences all aspects of our biology, including the oral cavity 1–3 , through which nutrients and microbes enter the body. Yet it is largely unknown which human genetic variants shape a person’s oral microbiome and potentially promote its dysbiosis 3–5 . We characterized the oral microbiomes of 12,519 people by re-analysing whole-genome sequencing reads from previously sequenced saliva-derived DNA. Human genetic variation at 11 loci (10 new) associated with variation in oral microbiome composition. Several of these related to carbohydrate availability; the strongest association ( P = 3.0 × 10 −188 ) involved the common FUT2 W154X loss-of-function variant, which associated with…