The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease
Open accessAbstract
Many common variants have been associated with hematological traits, but identification of causal genes and pathways has proven challenging. We performed a genome-wide association analysis in the UK Biobank and INTERVAL studies, testing 29.5 million genetic variants for association with 36 red cell, white cell, and platelet properties in 173,480 European-ancestry participants. This effort yielded hundreds of low frequency (<5%) and rare (<1%) variants with a strong impact on blood cell phenotypes. Our data highlight general properties of the allelic architecture of complex traits, including the proportion of the heritable component of each blood trait explained by the polygenic signal across different genome regulatory domains. Finally, through Mendelian randomization, we provide evidence of shared genetic pathways linking blood cell indices with complex pathologies, including autoimmune diseases, schizophrenia, and coronary heart disease and evidence suggesting previously reported population associations between blood cell indices and cardiovascular disease may be non-causal.
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The locus on chromosome 13 is well-known for its association with blood cell traits and autoimmune diseases.
“This locus on chromosome 13 is well-known for its association with blood cell traits and autoimmune diseases [40][41][42]”
From Plasma proteomic associations with genetics and health in the UK Biobank (2023) · cites this paper as [42]
The Results section on hematological traits and complex diseases reports loci with alleles associated with both higher eosinophil count and increased rheumatoid arthritis risk. The passages available from our copy do not identify the cited chromosome 13 locus or establish that it is one of those loci, so the locus-specific claim is not fully supported (page unavailable). (LLM, conf=0.78)
Experimental — accuracy not yet measuredOf these associations, 1538 (30.5%) were with various blood cell traits from the study conducted by Astle et al.
“Of these associations, 1538 (30.5%) were with various blood cell traits from the study conducted by Astle et al.66.”
From Genetic determinants of plasma protein levels in the Estonian population (2024) · cites this paper as [66]
Trait-specific consortia formed to accelerate genetic discovery through aggregation and meta-analysis of data from multiple GWAS studies.
“A host of trait-specific consortia formed, covering diverse dichotomous and quantitative phenotypes, to accelerate genetic discovery through the aggregation and meta-analysis of data from multiple GWAS studies41–43.”
From A brief history of human disease genetics (2020) · cites this paper as [42]
Population-based genetic variation has largely been studied for blood cell traits, and over ten thousand loci have been defined across the allelic spectrum that explain inter-individual variation in such traits.
“Population-based genetic variation has largely been studied for blood cell traits, and over ten thousand loci have been defined across the allelic spectrum that explain inter-individual variation in such traits (Astle et al., 2016; Chen et al., 2020; Vuckovic et al., 2020).”
From Unraveling Hematopoiesis through the Lens of Genomics (2020) · cites this paper as Astle et al., 2016
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- Authors
- Astle, W. J., Elding, H., Jiang, T., Allen, D., Ruklisa, D., Mann, A. L., Mead, D., Bouman, H., Riveros-Mckay, F., Kostadima, M. A., Lambourne, J. J., Sivapalaratnam, S., Downes, K., Kundu, K., Bomba, L., Berentsen, K., Bradley, J. R., Daugherty, L. C., Delaneau, O., Freson, K., Garner, S. F., Grassi, L., Guerrero, J., Haimel, M., Janssen-Megens, E. M., Kaan, A., Kamat, M., Kim, B., Mandoli, A., Marchini, J., Martens, J. H. A., Meacham, S., Megy, K., O’Connell, J., Petersen, R., Sharifi, N., Sheard, S. M., Staley, J. R., Tuna, S., van der Ent, M., Walter, K., Wang, S.-Y., Wheeler, E., Wilder, S. P., Iotchkova, V., Moore, C., Sambrook, J., Stunnenberg, H. G., Di Angelantonio, E., Kaptoge, S., Kuijpers, T. W., Carrillo-de-Santa-Pau, E., Juan, D., Rico, D., Valencia, A., Chen, L., Ge, B., Vasquez, L., Kwan, T., Garrido-Martín, D., Watt, S., Yang, Y., Guigo, R., Beck, S., Paul, D. S., Pastinen, T., Bujold, D., Bourque, G., Frontini, M., Danesh, J., Roberts, D. J., Ouwehand, W. H., Butterworth, A. S., & Soranzo, N.
- Affiliations
- National Health Service (GB)
- University of Cambridge (GB)
- NHS Blood and Transplant (GB)
- Wellcome Sanger Institute (GB)
- Barts Health NHS Trust (GB)
- Radboud University Nijmegen (NL)
- University of Geneva (CH)
- KU Leuven (BE)
- Centre for Human Genetics (GB)
- UK Biobank (GB)
- European Bioinformatics Institute (GB)
- Amsterdam UMC Location University of Amsterdam (NL)
- Spanish National Cancer Research Centre (ES)
- McGill University (CA)
- Universitat Pompeu Fabra (ES)
- University College London (GB)
- Churchill Hospital (GB)
- Corresponding author
- Danesh, John
- Roberts, David J.
- Ouwehand, Willem H.
- Butterworth, Adam S.
- Soranzo, Nicole
- ORCID
- Astle, William J.
- Ruklisa, Dace
- Mann, Alice L.
- Mead, Daniel
- Bouman, Heleen
- Riveros-Mckay, Fernando
- Kostadima, Myrto A.
- Lambourne, John J.
- Sivapalaratnam, Suthesh
- Downes, Kate
- Kundu, Kousik
- Bomba, Lorenzo
- Berentsen, Kim
- Bradley, John R.
- Daugherty, Louise C.
- Delaneau, Olivier
- Freson, Kathleen
- Grassi, Luigi
- Haimel, Matthias
- Marchini, Jonathan
- Martens, Joost H.A.
- Meacham, Stuart
- O’Connell, Jared
- Sheard, Simon M.
- Staley, James R.
- Tuna, Salih
- Walter, Klaudia
- Wang, Shuang-Yin
- Wheeler, Eleanor
- Wilder, Steven P.
- Iotchkova, Valentina
- Moore, Carmel
- Stunnenberg, Hendrik G.
- Kaptoge, Stephen
- Kuijpers, Taco W.
- Juan, David
- Rico, Daniel
- Valencia, Alfonso
- Chen, Lu
- Ge, Bing
- Vasquez, Louella
- Kwan, Tony
- Garrido-Martín, Diego
- Watt, Stephen
- Yang, Ying
- Beck, Stephan
- Paul, Dirk S.
- Pastinen, Tomi
- Bujold, David
- Bourque, Guillaume
- Frontini, Mattia
- Danesh, John
- Roberts, David J.
- Ouwehand, Willem H.
- Butterworth, Adam S.
- Soranzo, Nicole
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2016-11
- Volume
- 167
- Issue
- 5
- Pages
- 1415-1429.e19
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC5300907
- OpenAlex
- W2550031966
- Cited by
- 1,224
- References
- 99
- Citations by year
- 2026: 58 · 2025: 105 · 2024: 126 · 2023: 139 · 2022: 153 · 2021: 209 · 2020: 176 · 2019: 133 · 2018: 77 · 2017: 43 · 2016: 4
- FWCI
- 69.48
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Cell (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Pure Amsterdam UMC (publishedVersion)
- RECERCAT (Consorci de Serveis Universitaris de Catalunya) (publishedVersion, other-oa)
- Bristol Research (University of Bristol) (publishedVersion, cc-by)
- SERVAL (Université de Lausanne) (publishedVersion, cc-by)
- IRIS (submittedVersion, cc-by)
- Lirias (KU Leuven) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Repositori digital de la UPF (Universitat Pompeu Fabra) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion)
- Explore Bristol Research (submittedVersion, cc-by)
- Apollo (University of Cambridge) (submittedVersion, cc-by)
- Radboud Repository (Radboud University) (submittedVersion, other-oa)
- Apollo (cc-by)
- Funders
- NHS Health Education England
- BLUEPRINT Grant Code (HEALTH-F5-2011-282510)
- BHF Cambridge Centre of Excellence (RE/13/6/30180)
- MRC CASE Industrial
- Pfizer
- British Heart Foundation (RP-PG-0310-1002, RG/09/12/28096)
- European Research Council (268834)
- National Institute for Health Research
- NIHR BioResource-Rare Diseases
- NIHR (NIHR-RP-PG-0310-1004)
- European Commission (HEALTH-F2-2012-279233)
- Bristol Myers-Squibb
- NHSBT
- UK Medical Research Council (G0800270)
- BHF (SP/09/002)
- Cambridge Biomedical Research Centre
- European Commission Framework Programme 7 (HEALTH-F2-2012-279233)
- Merck
- Wellcome Trust (WT098051, WT091310)
- EU FP7 (EPIGENESYS 257082, BLUEPRINT HEALTH-F5-2011-282510)
- NIHR-BTRU
- “la Caixa”
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Mapping and Diversity in Plants and Animals
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Physical Performance
- Keywords
- blood cell traits, red blood cell indices, platelet indices, rare variants, low-frequency variants, polygenic heritability, Mendelian randomization, autoimmune disease, schizophrenia, coronary artery disease, cardiovascular disease, causal inference, complex disease genetics
- MeSH terms
- Alleles, Cell Differentiation, Hematopoietic Stem Cells, Humans, Immune System Diseases, Genetic Variation, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Quantitative Trait Loci, White People, Genome-Wide Association Study
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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