By Neha MathurNov 7 2023Reviewed by Danielle Ellis, B.Sc. In a recent article published in Nature Medicine, researchers investigated the potential implications of single-nucleotide variations in gut-residing bacterial species on human health.
Despite the relevance of SNP-level diversity in the gut microbiome concerning host–microbiome interactions, not many metagenomic-based studies have systematically investigated the link between bacterial SNPs and human traits. Further, they filtered all genomic positions by their coverage and variability . The gut bacterial population can have any number of allele copies. Therefore, the team modeled each sample’s genotype as a continuous number , representing the 'major allele frequency'.
To isolate unique SNPs associated with the host phenotype from potentially confounding phenotypes arising from differences in host diet, medications, and physical activity, they used a common GWAS approach, where other host traits, e.g., age, served as covariates. When used to estimate the statistical power of a similar MWAS analysis with various sample sizes, in 44% of cases, a species had an SNP associated with BMI. However, the relative abundance of the species was not associated with BMI.
Moreover, seven of 14 species in which SNP–BMI associations replicated in the second cohort did not have species-level relative abundance associations with BMI, further validating the additional information found at the SNP level.
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