Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Open accessAbstract
The selective pressures that shape clonal evolution in healthy individuals are largely unknown. Here we investigate 8,342 mosaic chromosomal alterations, from 50 kb to 249 Mb long, that we uncovered in blood-derived DNA from 151,202 UK Biobank participants using phase-based computational techniques (estimated false discovery rate, 6-9%). We found six loci at which inherited variants associated strongly with the acquisition of deletions or loss of heterozygosity in cis. At three such loci (MPL, TM2D3-TARSL2, and FRA10B), we identified a likely causal variant that acted with high penetrance (5-50%). Inherited alleles at one locus appeared to affect the probability of somatic mutation, and at three other loci to be objects of positive or negative clonal selection. Several specific mosaic chromosomal alterations were strongly associated with future haematological malignancies. Our results reveal a multitude of paths towards clonal expansions with a wide range of effects on human health.
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Changes associated with chronic lymphocytic leukemia (CLL) and losses of sex chromosomes are the most common variants that accumulate in aging.
“Instead, changes associated with chronic lymphocytic leukemia (CLL) and losses of sex chromosomes are the most common variants that accumulate in aging36.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [36]
Large structural variation, such as gains or losses of large segments of chromosomes, increases with age and has clinically meaningful associations.
“But large structural variation, such as gains or losses of large segments of chromosomes, also increases with age and has clinically meaningful associations 34–36.”
From Clonal hematopoiesis in human aging and disease (2019) · cites this paper as [36]
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- Authors
- Loh, P.-R., Genovese, G., Handsaker, R. E., Finucane, H. K., Reshef, Y. A., Palamara, P. F., Birmann, B. M., Talkowski, M. E., Bakhoum, S. F., McCarroll, S. A., & Price, A. L.
- Affiliations
- Broad Institute (US)
- Harvard University (US)
- University of Oxford (GB)
- Brigham and Women's Hospital (US)
- Memorial Sloan Kettering Cancer Center (US)
- Corresponding author
- Loh, Po-Ru
- Genovese, Giulio
- McCarroll, Steven A.
- Price, Alkes L.
- ORCID
- Venue
- Nature
- Published
- 2018-07
- Volume
- 559
- Issue
- 7714
- Pages
- 350-355
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC6054542
- OpenAlex
- W2843925039
- Cited by
- 423
- References
- 70
- Citations by year
- 2026: 43 · 2025: 60 · 2024: 64 · 2023: 59 · 2022: 50 · 2021: 62 · 2020: 40 · 2019: 41 · 2018: 4
- FWCI
- 26.97
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Nederlandse Organisatie voor Wetenschappelijk Onderzoek (480- 05-003)
- National Institutes of Health (DP5OD026395, 1s10rr028832-01)
- Medical Research Council (MC_PC_17228)
- National Institute of Mental Health (R01MH101244)
- National Human Genome Research Institute (R01HG006855, R01HG006399, UM1HG008900, R21HG009513, F32HG007805)
- National Cancer Institute (P30CA008748)
- National Institute of General Medical Sciences (R01GM105857, T32GM007753)
- National Center for Research Resources (S10 RR028832)
- Eunice Kennedy Shriver National Institute of Child Health and Human Development (R01HD081256)
- Topics
- Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- clonal hematopoiesis, mosaic chromosomal alterations, somatic mutations, loss of heterozygosity, clonal selection, hematologic malignancies, inherited mutations, MPL, clonal evolution, blood-derived DNA, UK Biobank
- MeSH terms
- Adult, Aged, Alleles, Chromosome Aberrations, Chromosomes, Human, Pair 10, Clone Cells, Female, United Kingdom, Health, Hematopoiesis, Humans, Male, Middle Aged, Mosaicism, Biological Specimen Banks, Hematologic Neoplasms, Chromosome Breakage, Penetrance, Chromosome Fragile Sites
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.
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