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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis

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Kar, Siddhartha P., Quiros, Pedro M., Gu, Muxin, Jiang, Tao, Mitchell, Jonathan, Langdon, Ryan, Iyer, Vivek, Barcena, Clea +6 more·2022·Nature Genetics
DOI 10.1038/s41588-022-01121-zPMC PMC9355874

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Abstract

Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven by somatic driver mutations, affects over a third of people, yet remains poorly understood. Here we analyze genetic data from 200,453 UK Biobank participants to map the landscape of inherited predisposition to CH, increasing the number of germline associations with CH in European-ancestry populations from 4 to 14. Genes at new loci implicate DNA damage repair ( PARP1 , ATM , CHEK2 ), hematopoietic stem cell migration/homing ( CD164 ) and myeloid oncogenesis ( SETBP1 ). Several associations were CH-subtype-specific including variants at TCL1A and CD164 that had opposite associations with DNMT3A - versus TET2 -mutant CH, the two most common CH subtypes, proposing key roles for these two loci in CH development. Mendelian randomization analyses showed that smoking and longer leukocyte telomere length are causal risk factors for CH and that genetic predisposition to CH increases risks of myeloproliferative neoplasia, nonhematological malignancies, atrial fibrillation and blood epigenetic ageing.

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  • In several cohorts, the variant allele frequencies of clonal hematopoiesis clones are typically small and do not expand significantly without additional transforming events.

    “It has been observed in several cohorts that the VAFs of CH clones are typically small and do not expand significantly without additional transforming events [20,88].”

    From Clonal hematopoiesis and inflammation – the perpetual cycle (2023) · cites this paper as [88]

    The Methods (Genome-wide association analyses; page unavailable) report 6,154 people with small CH clones (VAF < 0.1) and 4,049 with large clones, supporting the claim that small clones were more common in the analyzed sample. The paper does not establish that clones generally fail to expand without additional transforming events; its discussion instead describes factors associated with faster expansion. The cited evidence also does not establish this pattern across several cohorts. (LLM, conf=0.85)

    Experimental — accuracy not yet measured

  • A recent paper found that the genetic liability of CHIP was associated with an increased risk of lung, prostate, ovarian, oral and endometrial cancers.

    “a recent paper found that the genetic liability of CHIP was associated with an increased risk of lung, prostate, ovarian, oral and endometrial cancers7”

    From Clonal hematopoiesis is associated with protection from Alzheimer’s disease (2023) · cites this paper as [7]

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Authors
Kar, S. P., Quiros, P. M., Gu, M., Jiang, T., Mitchell, J., Langdon, R., Iyer, V., Barcena, C., Vijayabaskar, M. S., Fabre, M. A., Carter, P., Petrovski, S., Burgess, S., & Vassiliou, G. S.
Affiliations
  • University of Bristol (GB)
  • Wellcome/MRC Cambridge Stem Cell Institute (GB)
  • University of Cambridge (GB)
  • AstraZeneca (United Kingdom) (GB)
  • Wellcome Sanger Institute (GB)
  • Cambridge University Hospitals NHS Foundation Trust (GB)
Corresponding author
  • Kar, Siddhartha P.
  • Vassiliou, George S.
ORCID
Venue
Nature Genetics
Publisher
Springer Science and Business Media LLC
Published
2022-07-14
Volume
54
Issue
8
Pages
1155-1166
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
DOI
10.1038/s41588-022-01121-z
PMC
PMC9355874
OpenAlex
W4285387237
Cited by
377
References
22
Citations by year
2026: 72 · 2025: 112 · 2024: 91 · 2023: 82 · 2022: 20
FWCI
55.53
Type
journal article
Language
en
Open access
Licence
Locations
  • Nature Genetics (publishedVersion, cc-by)
  • medRxiv (acceptedVersion, cc-by-nc-nd)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Minerva Access (University of Melbourne) (submittedVersion, cc-by)
  • Explore Bristol Research (submittedVersion, cc-by)
  • Apollo (University of Cambridge) (submittedVersion, cc-by)
  • Apollo
  • Apollo (cc-by)
Funders
  • Leukemia and Lymphoma Society (RTF6006-19)
  • Wellcome Trust (WT098051, 204623/Z/16/Z)
  • Research Councils UK (MR/T043202/1)
  • Ministry of Economy and Competitiveness | Instituto de Salud Carlos III (Miguel Servet Program (CP20/00130))
  • Cancer Research UK (C18281/A29019)
  • British Heart Foundation
  • DH | National Institute for Health Research (BRC-1215-20014)
Topics
  • Health Sciences › Medicine › Hematology › Acute Myeloid Leukemia Research
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
Keywords
clonal hematopoiesis, somatic driver mutations, DNA repair, PARP1, ATM, CHEK2, CD164, SETBP1, TCL1, DNMT3A, TET2, smoking, leukocyte telomere length, atrial fibrillation, Mendelian randomization
MeSH terms
Clonal Hematopoiesis, Cell Transformation, Neoplastic, Hematopoiesis, Humans, Mutation, Risk Factors, Genetic Predisposition to Disease, Genome-Wide Association Study

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