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Trans-ethnic and Ancestry-Specific Blood-Cell Genetics in 746,667 Individuals from 5 Global Populations
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Abstract
Most loci identified by GWASs have been found in populations of European ancestry (EUR). In trans-ethnic meta-analyses for 15 hematological traits in 746,667 participants, including 184,535 non-EUR individuals, we identified 5,552 trait-variant associations at p < 5 × 10-9, including 71 novel associations not found in EUR populations. We also identified 28 additional novel variants in ancestry-specific, non-EUR meta-analyses, including an IL7 missense variant in South Asians associated with lymphocyte count in vivo and IL-7 secretion levels in vitro. Fine-mapping prioritized variants annotated as functional and generated 95% credible sets that were 30% smaller when using the trans-ethnic as opposed to the EUR-only results. We explored the clinical significance and predictive value of trans-ethnic variants in multiple populations and compared genetic architecture and the effect of natural selection on these blood phenotypes between populations. Altogether, our results for hematological traits highlight the value of a more global representation of populations in genetic studies.
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“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 [40]
Experimental — accuracy not yet measuredIn the citing paper
“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 Chen et al., 2020
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Metadata
- Authors
- Chen, M.-H., Raffield, L. M., Mousas, A., Sakaue, S., Huffman, J. E., Moscati, A., Trivedi, B., Jiang, T., Akbari, P., Vuckovic, D., Bao, E. L., Zhong, X., Manansala, R., Laplante, V., Chen, M., Lo, K. S., Qian, H., Lareau, C. A., Beaudoin, M., Hunt, K. A., Akiyama, M., Bartz, T. M., Ben-Shlomo, Y., Beswick, A., Bork-Jensen, J., Bottinger, E. P., Brody, J. A., van Rooij, F. J. A., Chitrala, K., Cho, K., Choquet, H., Correa, A., Danesh, J., Di Angelantonio, E., Dimou, N., Ding, J., Elliott, P., Esko, T., Evans, M. K., Floyd, J. S., Broer, L., Grarup, N., Guo, M. H., Greinacher, A., Haessler, J., Hansen, T., Howson, J. M. M., Huang, Q. Q., Huang, W., Jorgenson, E., Kacprowski, T., Kähönen, M., Kamatani, Y., Kanai, M., Karthikeyan, S., Koskeridis, F., Lange, L. A., Lehtimäki, T., Lerch, M. M., Linneberg, A., Liu, Y., Lyytikäinen, L.-P., Manichaikul, A., Martin, H. C., Matsuda, K., Mohlke, K. L., Mononen, N., Murakami, Y., Nadkarni, G. N., Nauck, M., Nikus, K., Ouwehand, W. H., Pankratz, N., Pedersen, O., Preuss, M., Psaty, B. M., Raitakari, O. T., Roberts, D. J., Rich, S. S., Rodriguez, B. A. T., Rosen, J. D., Rotter, J. I., Schubert, P., Spracklen, C. N., Surendran, P., Tang, H., Tardif, J.-C., Trembath, R. C., Ghanbari, M., Völker, U., Völzke, H., Watkins, N. A., Zonderman, A. B., Wilson, P. W. F., Li, Y., Butterworth, A. S., Gauchat, J.-F., Chiang, C. W. K., Li, B., Loos, R. J. F., Astle, W. J., Evangelou, E., van Heel, D. A., Sankaran, V. G., Okada, Y., Soranzo, N., Johnson, A. D., Reiner, A. P., Auer, P. L., & Lettre, G.
- Affiliations
- University of Southern California (US)
- University of North Carolina at Chapel Hill (US)
- Montreal Heart Institute (CA)
- RIKEN Center for Integrative Medical Sciences (JP)
- VA Boston Healthcare System (US)
- Icahn School of Medicine at Mount Sinai (US)
- Queen Mary University of London (GB)
- University of Cambridge (GB)
- Wellcome Sanger Institute (GB)
- Broad Institute (US)
- Vanderbilt University (US)
- University of Wisconsin–Milwaukee (US)
- Université de Montréal (CA)
- Kyushu University (JP)
- University of Washington (US)
- University of Bristol (GB)
- Brigham and Women's Hospital (US)
- Kaiser Permanente (US)
- University of Mississippi Medical Center (US)
- University of Ioannina (GR)
- Wake Forest University Health Sciences (US)
- Imperial College Healthcare NHS Trust (GB)
- National Institutes of Health (US)
- Erasmus MC (NL)
- University of Copenhagen (DK)
- Universitätsmedizin Greifswald (DE)
- Fred Hutch Cancer Center (US)
- Chinese National Human Genome Center (CN)
- Tampere University (FI)
- Massachusetts General Hospital (US)
- University of Colorado Anschutz (US)
- Duke University (US)
- University of Virginia (US)
- The University of Tokyo (JP)
- Institute of Medical Science, The University of Tokyo (JP)
- National Health Service (GB)
- University of Minnesota (US)
- Kaiser Permanente Washington Health Research Institute (US)
- University of Turku (FI)
- NHS Blood and Transplant (GB)
- National Heart, Lung, and Blood Institute (US)
- The Lundquist Institute (US)
- Stanford Medicine (US)
- King's College London (GB)
- Mashhad University of Medical Sciences (IR)
- Atlanta VA Medical Center (US)
- The University of Osaka (JP)
- Corresponding author
- Auer, Paul L.
- Lettre, Guillaume
- ORCID
- Chen, Ming-Huei
- Raffield, Laura M.
- Mousas, Abdou
- Sakaue, Saori
- Huffman, Jennifer E.
- Moscati, Arden
- Akbari, Parsa
- Vuckovic, Dragana
- Bao, Erik L.
- Zhong, Xue
- Manansala, Regina
- Chen, Minhui
- Lo, Ken Sin
- Qian, Huijun
- Lareau, Caleb A.
- Beaudoin, Mélissa
- Hunt, Karen A.
- Akiyama, Masato
- Bartz, Traci M.
- Beswick, Andrew
- Brody, Jennifer A.
- Cho, Kelly
- Choquet, Hélène
- Correa, Adolfo
- Danesh, John
- Dimou, Niki
- Ding, Jingzhong
- Elliott, Paul
- Esko, Tõnu
- Evans, Michele K.
- Floyd, James S.
- Broer, Linda
- Grarup, Niels
- Guo, Michael H.
- Greinacher, Andreas
- Hansen, Torben
- Howson, Joanna M.M.
- Huang, Qin Qin
- Huang, Wei
- Jorgenson, Eric
- Kacprowski, Tim
- Kähönen, Mika
- Kanai, Masahiro
- Karthikeyan, Savita
- Lehtimäki, Terho
- Lerch, Markus M.
- Linneberg, Allan
- Liu, Yongmei
- Lyytikäinen, Leo-Pekka
- Manichaikul, Ani
- Martin, Hilary C.
- Matsuda, Koichi
- Mohlke, Karen L.
- Mononen, Nina
- Nadkarni, Girish N.
- Nauck, Matthias
- Nikus, Kjell
- Ouwehand, Willem H.
- Pankratz, Nathan
- Pedersen, Oluf
- Preuss, Michael
- Psaty, Bruce M.
- Raitakari, Olli T.
- Roberts, David J.
- Rich, Stephen S.
- Rodriguez, Benjamin A.T.
- Rosen, Jonathan D.
- Rotter, Jerome I.
- Schubert, Petra
- Spracklen, Cassandra N.
- Surendran, Praveen
- Tang, Hua
- Tardif, Jean-Claude
- Trembath, Richard C.
- Ghanbari, Mohsen
- Völker, Uwe
- Völzke, Henry
- Zonderman, Alan B.
- Wilson, Peter W.F.
- Li, Yun
- Butterworth, Adam S.
- Chiang, Charleston W.K.
- Li, Bingshan
- Loos, Ruth J.F.
- Astle, William J.
- Sankaran, Vijay G.
- Okada, Yukinori
- Soranzo, Nicole
- Johnson, Andrew D.
- Auer, Paul L.
- Lettre, Guillaume
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 2020-09
- Volume
- 182
- Issue
- 5
- Pages
- 1198-1213.e14
- ISSN
- 0092-8674 (ISSN-L)
- PMC
- PMC7480402
- OpenAlex
- W3082575318
- Cited by
- 661
- References
- 85
- Citations by year
- 2026: 75 · 2025: 142 · 2024: 146 · 2023: 108 · 2022: 98 · 2021: 82 · 2020: 9
- FWCI
- 10.90
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- Research at the University of Copenhagen (University of Copenhagen) (publishedVersion, other-oa)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
- Bristol Research (University of Bristol) (acceptedVersion, cc-by-nc-nd)
- PubMed Central (acceptedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- publish.UP (University of Potsdam) (submittedVersion)
- Queen Mary Research Online (Queen Mary University of London) (submittedVersion, cc-by-nc-nd)
- Funders
- Canadian Institutes of Health Research
- National Institutes of Health
- 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 › Forensic and Genetic Research
- Keywords
- hematological traits, lymphocyte count, IL-7, fine mapping, natural selection, genetic architecture, South Asians, non-European populations
- MeSH terms
- Genetics, Humans, Phenotype, Interleukin-7, Mutation, Missense, Polymorphism, Single Nucleotide, White People, Asian People, Genome-Wide Association Study, HEK293 Cells
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