Evidence map›Paper›PMID 37932435›Full record

ArticleNature genetics2023

Genetics and epidemiology of mutational barcode-defined clonal hematopoiesis.

Simon N Stacey, Florian Zink, Gisli H Halldorsson, Lilja Stefansdottir, Sigurjon A Gudjonsson, Gudmundur Einarsson, Grimur Hjörleifsson, Thjodbjorg Eiriksdottir, Anna Helgadottir, Gyda Björnsdottir and 21 more

Open access · hybridAbstract read
In one paragraph

Article in Nature genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
45citing papers in PubMed, 1 pooled it
18.3field-weighted citation impact, top 1% 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

45 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.

  1. Pooled it
  2. Risk factors of clonal hematopoiesis of indeterminate potential.Clinical medicine (London, England) · 2026
    Article
  3. Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026
    Review
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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

31 authors at 3 institutions in 1 country.

Simon N Stacey *deCODE genetics/Amgen Inc., Reykjavik, Iceland. simon.stacey@decode.is.ORCID 0000-0002-4732-7380
Florian Zink *deCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gisli H HalldorssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-7067-9862
Lilja StefansdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Sigurjon A GudjonssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Gudmundur EinarssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-1326-2339
Grimur HjörleifssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-9580-6685
Thjodbjorg EiriksdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-1009-7398
Anna HelgadottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-1806-2467
Gyda BjörnsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-8100-0306
Thorgeir E ThorgeirssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Thorunn A OlafsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-5454-938X
Ingileif JonsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-8339-150X
Solveig GretarsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-2616-7269
Vinicius TragantedeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-8223-8957
Magnus K MagnussondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-8593-4934
Hakon JonssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-6197-494X
Julius GudmundssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Sigurgeir OlafssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-1711-2757
Hilma HolmdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-9517-6636
Daniel F GudbjartssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0002-5222-9857
Patrick SulemdeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0001-7123-6123
Agnar HelgasondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Unnur ThorsteinsdottirdeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Laufey TryggvadottirIcelandic Cancer Registry, Reykjavik, Iceland.ORCID 0000-0001-8067-9030
Thorunn RafnardeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-0491-7046
Pall MelsteddeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Magnus Ö UlfarssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.
Brynjar VidarssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Gudmar ThorleifssondeCODE genetics/Amgen Inc., Reykjavik, Iceland.ORCID 0000-0003-4623-9087
Kari StefanssondeCODE genetics/Amgen Inc., Reykjavik, Iceland. kari.stefansson@decode.is.ORCID 0000-0003-1676-864X
deCODE Genetics (Iceland) · ISReykjavík University · ISIcelandic Cancer Society · IS

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Clonal hematopoiesis (CH) arises when a substantial proportion of mature blood cells is derived from a single hematopoietic stem cell lineage. Using whole-genome sequencing of 45,510 Icelandic and 130,709 UK Biobank participants combined with a mutational barcode method, we identified 16,306 people with CH. Prevalence approaches 50% in elderly participants. Smoking demonstrates a dosage-dependent impact on risk of CH. CH associates with several smoking-related diseases. Contrary to published claims, we find no evidence that CH is associated with cardiovascular disease. We provide evidence that CH is driven by genes that are commonly mutated in myeloid neoplasia and implicate several new driver genes. The presence and nature of a driver mutation alters the risk profile for hematological disorders. Nevertheless, most CH cases have no known driver mutations. A CH genome-wide association study identified 25 loci, including 19 not implicated previously in CH. Splicing, protein and expression quantitative trait loci were identified for CD164 and TCL1A.

Indexed as

Clonal HematopoiesisGenome-Wide Association StudyAgedHematopoiesisHematopoietic Stem CellsHumansMutation

Identifiers

PMID37932435
PMCPMC10703693
OpenAlexW4388410112

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.