Sumstats Gut microbiome

Joint host whole-genome sequencing and gut microbiome profiling in 252 Chinese individuals with graded cognitive disability. Microbiome GWAS for latent enterosignature (Anaerostipes-enriched) abundance; integrates AD polygenic risk and brain cell-type expression context. Open-access report in Microbiome.

Genome-wide association analysis in 8,956 German individuals links host variation to single-taxon and overall gut microbiome composition; replicates ABO histo-blood group and FUT2 secretor associations with Bacteroides and Faecalibacterium. Includes Mendelian randomization for IBD-relevant microbial effects.

Meta-analysis of genome-wide associations between host genotypes and gut microbial structural variants (deletion dSVs and variable vSVs) from metagenomes in four Dutch cohorts (n = 9,015), with replication in Tanzania (n = 279). After frequency filters, GWAS used 3,552 common SV phenotypes aggregated across 49 bacterial species with sufficient metagenomic coverage. Highlights ABO/FUT2–GalNAc pathways and Faecalibacterium prausnitzii SVs.

Japanese shotgun metagenome and SNP-array GWAS (7,213,469 post-imputation variants, MAF >1%, Minimac4 Rsq >0.7): microbial traits included species, gene orthologs, and pathways. Two study waves—dataset 1 (gut microbiome, plasma metabolome, genotype): n = 300; dataset 2 (gut microbiome, genotype): n = 224—were combined by fixed-effect meta-analysis (total n = 524; Figure S1 / Table S1). Species GWAS used 423 microbial species (study-wide threshold 5×10⁻⁸/423); headline hits include PDE1C–Bacteroides intestinalis and TGIF2 / TGIF2-RAB5IF–B. acidifaciens, plus microbial gene ortholog associations with blood group A conditioned on East Asian FUT2 secretor status. Metabolome arm in dataset 1 supports microbiome–plasma integration. Public data resource.

MiBioGen consortium meta-analysis: genome-wide host genotypes with 16S fecal microbiome data across 24 cohorts (n = 18,340). N_MICROBES = 410 genus-level groups in the MiBioGen framework (paper: nine genera detected in >95% of samples). Identifies 31 genome-wide significant loci affecting microbial taxa (e.g. lactase LCT, ABO, fucosyltransferase cluster).

16S rRNA amplicon-based GWAS of salivary microbiota traits in unrelated Danish adults from the ADDITION-PRO cohort (n = 610). Identifies host SNPs associated with oral bacterial abundance and beta diversity; several variants link to metabolic traits. Oral (not gut) microbiota — listed here for host–microbiome genetics.

Harmonized shotgun metagenome GWAS in 16,017 adults from four Swedish studies, with replication in 12,652 participants from the Norwegian HUNT study. Reports loci including OR51E1–OR51E2 (microbial richness), LCT, ABO, FUT2, MUC12, CORO7–HMOX2, SLC5A11, FOXP1, FUT3–FUT6, and species-level associations.

Genome-wide association analyses for human gut bacteria in Han Chinese (n = 7,935) from the Westlake Chinese Multi-omics GWAS Catalog. N_MICROBES matches the bacteria phenotypes.tsv table on the portal (2026).

Genome-wide association analyses for human gut fungi (mycobiome) in Han Chinese (n = 7,350) from the Westlake Chinese Multi-omics GWAS Catalog. N_MICROBES matches the fungi phenotypes.tsv table on the portal (2026). Companion publication was listed as unpublished on the catalog data page as of 2026.

Paired colonic mucosal RNA-seq and 16S gut microbiome data (208 sample pairs) across colorectal cancer, IBD, and IBS; machine-learning integration (sparse CCA, lasso) maps shared and disease-specific host gene–microbe associations—not SNP-based GWAS.

Perspective on microbial GWAS (mbGWAS): state of the art, heterogeneity of microbiome assays, power, and directions for genetic analysis of the gut microbiome.