ArticleNature genetics2024
Perturbational phenotyping of human blood cells reveals genetically determined latent traits associated with subsets of common diseases.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 1 of them a synthesis that pooled it.
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Who cites it
23 citing papers in PubMed, 1 synthesis or guideline pooled it, 38 citations in OpenAlex.
- Causal effects of blood cells on breast cancer: Evidence from bidirectional Mendelian randomization combined with meta-analysis.Medicine · 2025Pooled it
- Platelet perturbation to ciprofloxacin exacerbates IBD through regulation of HLA DR on CD14⁻CD16⁺ monocytes.Internal and emergency medicine · 2026Article
- Platelet perturbation to ciprofloxacin exacerbates IBD through regulation of HLA DR on CD14⁻CD16⁺ monocytes.Internal and emergency medicine · 2026Article
- Genetic prediction of blood cell reactivity and its potential causal influence on bone continuity and density disorders.Animal models and experimental medicine · 2026Article
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- Alterations of Growth Performance, Blood Parameters, and Antioxidant Function of Brown Adipose Tissue in Mice Exposed to Cold.Antioxidants (Basel, Switzerland) · 2026Article
- Article
- Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025Article
- Causal links and immune mediators between blood cells and breast cancer risk: a mendelian randomization study.Discover oncology · 2025Article
- Causal Effect of Blood Cell Perturbation Phenotypes on Multiple Sclerosis via Immune Mediation: A Mendelian Randomization Study.Cellular and molecular neurobiology · 2025Article
- Blood cell perturbation responses mediate the causal relationship between the gut microbiota and asthma: a bidirectional Mendelian randomization study.BMC medical genomics · 2025Article
- Causal relationships between gut microbiota and urothelial carcinoma mediated by inflammatory cytokines and blood cell traits identified through Mendelian randomization analysis.Discover oncology · 2025Article
- Unraveling the role of blood cell perturbation responses in lung cancer by Mendelian randomization.Discover oncology · 2025Article
- An evolving understanding of multiple causal variants underlying genetic association signals.American journal of human genetics · 2025Review
- A mendelian randomization study on the association between 731 types of immune cells and 91 types of blood cells with venous thromboembolism.Thrombosis journal · 2025Article
- Mendelian randomization and mediation analysis reveal the role of immune cell subsets in the causal pathways between blood cell perturbation responses and rheumatoid arthritis.Clinical rheumatology · 2025Article
- DNA methylation-regulated HLA-C expression modulates immune responses and metabolic alterations to influence prognosis in mesothelioma.Cancer immunology, immunotherapy : CII · 2025Article
- Exploring the mediating role of immune cells in the pathogenesis of IgA nephropathy through the inflammatory axis of gut microbiota from a genomic perspective.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Review
- Type I IFN induces long-chain acyl-CoA synthetase 1 to generate a phosphatidic acid reservoir for lipotoxic saturated fatty acids.Journal of lipid research · 2025Article
Corrections and comments
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Authors and funding
31 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Although genome-wide association studies (GWAS) have successfully linked genetic risk loci to various disorders, identifying underlying cellular biological mechanisms remains challenging due to the complex nature of common diseases. We established a framework using human peripheral blood cells, physical, chemical and pharmacological perturbations, and flow cytometry-based functional readouts to reveal latent cellular processes and performed GWAS based on these evoked traits in up to 2,600 individuals. We identified 119 genomic loci implicating 96 genes associated with these cellular responses and discovered associations between evoked blood phenotypes and subsets of common diseases. We found a population of pro-inflammatory anti-apoptotic neutrophils prevalent in individuals with specific subsets of cardiometabolic disease. Multigenic models based on this trait predicted the risk of developing chronic kidney disease in type 2 diabetes patients. By expanding the phenotypic space for human genetic studies, we could identify variants associated with large effect response differences, stratify patients and efficiently characterize the underlying biology.
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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 OpenQuestion graph.