ArticleProceedings of the National Academy of Sciences of the United States of America2022
Microbiome-associated human genetic variants impact phenome-wide disease risk.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
18 citing papers in PubMed.
- TestNet: a method for inferring microbial networks with false discovery rate control for clustered and unclustered samples.Genome biology · 2026Article
- High-fat diet reshapes microbial interactions to promote breast cancer stemness via Streptococcus mutans-induced leucine accumulation.Breast cancer research : BCR · 2026Article
- A role for gut mycobiome and altered fungal-bacterial interactions in women with endometriosis†.Biology of reproduction · 2025Article
- Gut fungi are associated with human genetic variation and disease risk.PLoS biology · 2025Article
- HGCMLDA: predicting lncRNA-disease associations using hypergraph contrastive learning and multi-scale attentional feature fusion.Briefings in bioinformatics · 2025Article
- Genetic risk variants implicate impaired maintenance and repair of periodontal tissues as causal for periodontitis-A synthesis of recent findings.Periodontology 2000 · 2025Review
- Short-chain fatty acids ameliorate imiquimod-induced skin thickening and IL-17 levels and alter gut microbiota in mice: a metagenomic association analysis.Scientific reports · 2024Article
- Gene-Gene Interaction Between Factor-Neurology · 2024Article
- A genome-wide association study reveals the relationship between human genetic variation and the nasal microbiome.Communications biology · 2024Article
- Node-adaptive graph Transformer with structural encoding for accurate and robust lncRNA-disease association prediction.BMC genomics · 2024Article
- Genome-wide association studies: utility and limitations for research in physiology.The Journal of physiology · 2023Article
- Gut Microbiota and Microbial Metabolism in Early Risk of Cardiometabolic Disease.Circulation research · 2023Review
- Review
- Influence of perinatal and childhood exposure to tobacco and mercury in children's gut microbiota.Frontiers in microbiology · 2023Article
- Early-life microbiota-immune homeostasis.Frontiers in immunology · 2023Review
- The triangle relationship between human genome, gut microbiome, and COVID-19: opening of a Pandora's box.Frontiers in microbiology · 2023Review
- Association between Microbiome-Related Human Genetic Variants and Fasting Plasma Glucose in a High-Cardiovascular-Risk Mediterranean Population.Medicina (Kaunas, Lithuania) · 2022Article
- Microbiome-associated human genetic variants impact phenome-wide disease risk.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
Human genetic variation associates with the composition of the gut microbiome, yet its influence on clinical traits remains largely unknown. We analyzed the consequences of nearly a thousand gut microbiome-associated variants (MAVs) on phenotypes reported in electronic health records from tens of thousands of individuals. We discovered and replicated associations of MAVs with neurological, metabolic, digestive, and circulatory diseases. Five significant MAVs in these categories correlate with the relative abundance of microbes down to the strain level. We also demonstrate that these relationships are independently observed and concordant with microbe by disease associations reported in case-control studies. Moreover, a selective sweep and population differentiation impacted some disease-linked MAVs. Combined, these findings establish triad relationships among the human genome, microbiome, and disease. Consequently, human genetic influences may offer opportunities for precision diagnostics of microbiome-associated diseases but also highlight the relevance of genetic background for microbiome modulation and therapeutics.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.