ArticleNature communications2023
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology.
Article in Nature communications, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Pooled it
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Article
- Medical haematology: Repositioning haematology at the centre of medicine.British journal of haematology · 2026Review
- Multi-tissue transcriptome-wide association study identifies 29 risk genes associated with attention-deficit/hyperactivity disorder.medRxiv : the preprint server for health sciences · 2026Article
- Federated single-cell QTL meta-analysis reveals novel disease mechanisms.bioRxiv : the preprint server for biology · 2026Article
- Intestinal transcriptomic analysis and prediction of biomarkers associated with mucosal healing following vedolizumab treatment in ulcerative colitis using machine learning.BMC gastroenterology · 2026Article
- Embryonic lineage-specific iPSC-derived mesenchymal stem/stromal cells exhibit different morphologies and intrinsic functions.iScience · 2026Article
- Blood eosinophils as predictors of asthma exacerbations in adults: converging evidence from mendelian randomization, single-cell transcriptomics, and a two-center longitudinal cohort.Frontiers in immunology · 2026Article
- Association of air pollution with chronic obstructive pulmonary disease: anemia-related outcomes and exploratory genetic susceptibility analyses.Frontiers in medicine · 2026Article
- Interactions with polygenic background impact quantitative traits in the UK Biobank.medRxiv : the preprint server for health sciences · 2025Article
- A novel isoform of tensin-1 promotes actin filament assembly for efficient erythroblast enucleation.Blood advances · 2025Article
- Genome-wide association analysis of neutrophil granularity identifies CDK6 as a regulator of primary granules.iScience · 2025Article
- A comprehensive phenome wide analysis of the role of neutrophils in health and disease.Journal of leukocyte biology · 2025Article
- Article
- Are single nucleotide polymorphisms underutilized for guiding treatment of inflammatory bowel disease?Immunology and cell biology · 2025Review
- Improved genetic discovery and fine-mapping resolution through multivariate latent factor analysis of high-dimensional traits.Cell genomics · 2025Article
- Genome-wide analyses of variance in blood cell phenotypes provide new insights into complex trait biology and prediction.Nature communications · 2025Article
- The contribution of genetic determinants of blood gene expression and splicing to molecular phenotypes and health outcomes.Nature genetics · 2025Article
- A systematic evaluation of computational methods for cell segmentation.bioRxiv : the preprint server for biology · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
32 authors at 9 institutions in 6 countries.
Funding
Abstract
Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large-scale genetic analysis. We perform genome-wide association studies of 63 flow-cytometry derived cellular phenotypes-including cell-type specific measures of granularity, nucleic acid content and reactivity-in 41,515 participants in the INTERVAL study. We identify 2172 distinct variant-trait associations, including associations near genes coding for proteins in organelles implicated in inflammatory and thrombotic diseases. By integrating with epigenetic data we show that many intracellular structures are likely to be determined in immature precursor cells. By integrating with proteomic data we identify the transcription factor FOG2 as an early regulator of platelet formation and α-granularity. Finally, we show that colocalisation of our associations with disease risk signals can suggest aetiological cell-types-variants in IL2RA and ITGA4 respectively mirror the known effects of daclizumab in multiple sclerosis and vedolizumab in inflammatory bowel disease.
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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 OpenQuestion graph.