Evidence map›Paper›PMID 37684235›Full record

ArticleNature communications2023

Shared and distinct genetic etiologies for different types of clonal hematopoiesis.

Derek W Brown, Liam D Cato, Yajie Zhao, Satish K Nandakumar, Erik L Bao, Eugene J Gardner, Aubrey K Hubbard, Alexander DePaulis, Thomas Rehling, Lei Song and 5 more

Open access · goldAbstract read
In one paragraph

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 33 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
33citing papers in PubMed, 1 pooled it
9.3field-weighted citation impact, top 2% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

33 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.

  1. Pooled it
  2. Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026
    Review
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  20. Identifying genetic errors of immunity due to mosaicism.The Journal of experimental medicine · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

15 authors at 3 institutions in 2 countries.

Derek W Brown *Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0001-8393-1713
Liam D Cato *Division of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA.
Yajie Zhao *MRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, CB2 0QQ, UK.ORCID http://orcid.org/0000-0002-2747-0219
Satish K NandakumarDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA.ORCID http://orcid.org/0000-0002-7853-426X
Erik L BaoDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA.ORCID http://orcid.org/0000-0002-6074-6766
Eugene J GardnerMRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, CB2 0QQ, UK.
Aubrey K HubbardDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Alexander DePaulisDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Thomas RehlingDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Lei SongDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Kai YuDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.
Stephen J ChanockDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA.ORCID http://orcid.org/0000-0002-2324-3393
John R B PerryMRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, CB2 0QQ, UK. john.perry@mrc-epid.cam.ac.uk.ORCID http://orcid.org/0000-0001-6483-3771
Vijay G SankaranDivision of Hematology/Oncology, Boston Children's Hospital and Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, 02115, USA. sankaran@broadinstitute.org.ORCID http://orcid.org/0000-0003-0044-443X
Mitchell J MachielaDivision of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, USA. mitchell.machiela@nih.gov.ORCID http://orcid.org/0000-0001-6538-9705
National Cancer Institute · USBroad Institute · USUniversity of Cambridge · GB

Funding

Systematic Genetic Dissection of Human ErythropoiesisR01DK103794 · NIDDK · BOSTON CHILDREN'S HOSPITAL · PI Vijay Ganesh Sankaran · 2014 to 2026
$5.9M
Next generation functional genomics of hematology traitsR01HL146500 · NHLBI · UNIVERSITY OF WASHINGTON · PI ALEXANDER P REINER · 2020 to 2026
$5.7M
Selective pressures from inherited variation impacting myeloproliferative neoplasm initiationR01CA265726 · NCI · BOSTON CHILDREN'S HOSPITAL · PI Vijay Ganesh Sankaran · 2022 to 2026
$2.5M
Medical Research Council MC_UU_00006/2Medical Research Council MC_UU_12015/2NCI NIH HHS R01 CA265726NHLBI NIH HHS R01 HL146500NIDDK NIH HHS R01 DK103794Wellcome Trust
6 · The paper itself

Abstract

Clonal hematopoiesis (CH)-age-related expansion of mutated hematopoietic clones-can differ in frequency and cellular fitness by CH type (e.g., mutations in driver genes (CHIP), gains/losses and copy-neutral loss of chromosomal segments (mCAs), and loss of sex chromosomes). Co-occurring CH raises questions as to their origin, selection, and impact. We integrate sequence and genotype array data in up to 482,378 UK Biobank participants to demonstrate shared genetic architecture across CH types. Our analysis suggests a cellular evolutionary trade-off between different types of CH, with LOY occurring at lower rates in individuals carrying mutations in established CHIP genes. We observed co-occurrence of CHIP and mCAs with overlap at TET2, DNMT3A, and JAK2, in which CHIP precedes mCA acquisition. Furthermore, individuals carrying overlapping CH had high risk of future lymphoid and myeloid malignancies. Finally, we leverage shared genetic architecture of CH traits to identify 15 novel loci associated with leukemia risk.

Indexed as

Biological EvolutionClonal HematopoiesisClone CellsDNA Modification MethylasesGenotypeHumansDNA Modification Methylases

Identifiers

PMID37684235
PMCPMC10491829
OpenAlexW4386532034

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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.