PUBLICATIONS

The intestinal bacteria (microbiota) are known to be influenced by the outside world, our environments, and our own bodies; the hosts. This study looks at the relationship between the intestinal microbiota (representing all bacteria living in our intestines), and the relationship these may have with our genes. Intestinal microbiota are known to be important in health and disease. Our study found that one third of the bacteria in the microbiota is heritable. This means that these heritable bacteria are more likely to be present in two individuals that are related. Our study found that 58 specific mutations in the subjects' DNA were contributing to this heritability. Their influence was observed in 33 types of the intestinal bacteria. Four of these discoveries have been confirmed in another group of subjects. This study was able to show that there are associations between specific genes and the bacteria comprising the microbiome. Turpin W, Espin-Garcia O, Xu W, Silverberg MS, Kevans D, Smith MI, Guttman DS, Griffiths A, Panancionne R, Otley A, Xu L, Shestopaloff K, Moreno-Hagelsieb G, The GEM Project Research Consortium, Paterson AD, Croitoru K. Nat Genet. 2016 Nov;48(11):1413-1417. doi: 10.1038/ng.3693. Epub 2016 Oct 3. https://www.ncbi.nlm.nih.gov/pubmed/27694960

Abstract

Intestinal microbiota is known to be important in health and disease. Its composition is influenced by both environmental and host factors. Few large-scale studies have evaluated the association between host genetic variation and the composition of microbiota. We recruited a cohort of 1,561 healthy individuals, of whom 270 belong in 123 families, and found that almost one-third of fecal bacterial taxa were heritable.   In addition, we identified 58 SNPs associated with the relative abundance of 33 taxa in 1,098 discovery subjects. Among these, four loci were replicated in a second cohort of 463 subjects: rs62171178 (nearest gene UBR3) associated with Rikenellaceae, rs1394174 (CNTN6) associated with Faecalibacterium, rs59846192 (DMRTB1) associated with Lachnospira, and rs28473221 (SALL3) associated with Eubacterium. After correction for multiple testing, 6 of the 58 associations remained significant, one of which replicated. These results identify associations between specific genetic variants and the gut microbiome.