Table 2.
Studies investigating potential associations between human genetics and microbiota composition.
| Type of study | Number of subjects | Gene associations | Main findings | References |
|---|---|---|---|---|
| mGWAS (twin pairs) | 1,126 | 8.8% of taxa are heritable | Associations between host genetics and colonization with Methanobrevibacter and Blautia | Goodrich et al., 2016 |
| mGWAS (twin pairs) | 545 | 6% of taxa are heritable | Identified associations between host genetics and gut microbiome Some components associated with visceral fat |
Beaumont et al., 2016 |
| mGWAS (individuals) | 1,812 | 42 SNPs associated with β diversity that together explained 10% of the variance of microbiome β-diversity | Human gut microbiome associated with VDR gene. Verified altered microbiome in VDR-deficient mice |
Wang et al., 2016 |
| mGWAS (twin pairs) | 416 | 5.3% of taxa heritable | Some species of the gut microbiome are heritable, including the family Christensenellaceae |
Goodrich et al., 2014 |
| mGWAS (individuals) whole-metagenome sequencing |
1,514 | 9 SNPs associated with microbial taxa, 33 SNPs associated with microbial pathways | LINGO2 variants associated with the genus Blautia and family Methanobacteriaceae |
Bonder et al., 2016 |
| mGWAS (individuals) | 1,561 | 58 SNPs associated with 33 microbial taxa | Identified host gene variants associated with the abundance of Rikenellaceae, Faecalibacterium, Lachnospira and Eubacterium | Turpin et al., 2016 |
| mGWAS (individuals) | 474 | 49 SNPs associated with microbial taxa | Colonization with Enterobacteriaceae in NOD2-deficient individuals | Knights et al., 2014 |
| mGWAS (individuals) | 127 | 8 bacterial species associated with SNPs | Colonization with the genus Akkermansia and the gene PLD1 in a Hutterite population | Davenport et al., 2015 |
| 16S rRNA gene pyrosequencing + PCR-DGGE (individuals) mGWAS (twin pairs) mGWAS (individuals) | 71 1,503 1,190 |
SNP rs601338 (FUT2) SNP rs601338 (FUT2) ABO secretor status SNP, rs601338 (FUT2) Dominant phyla: Firmicutes, Bacteroidetes, Actinobacteria. |
rs601338 associated with secretor status and with human microbiota composition No association between FUT2 genotype with human fecal microbial composition and ABO secretor status No association between FUT2 with human fecal microbial composition and imputed function. |
Wacklin et al., 2014 Davenport et al., 2016 Turpin et al., 2018 |
| mGWAS (individuals) Measurements: Anthropometric Blood Dietary habits |
1,046 | Estimate heritability of gut microbiome taxa 1.9% | Significant similarities in the compositions of the microbiomes of genetically unrelated individuals who share a household. Over 20% of the inter-person microbiome variability is associated with factors related to diet, drugs and anthropometric measurements. |
Rothschild et al., 2018 |