Evidence map›Paper›PMID 40550869›Full record

ArticleScientific reports2025

Evidence for a transgenerational mutational signature from ionizing radiation exposure in humans.

Fabian Brand, Hannah Klinkhammer, Alexej Knaus, Manuel Holtgrewe, Leonie Weinhold, Dieter Beule, Kerstin Ludwig, Prachi Kothiyal, George Maxwell, Markus Noethen and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Scientific reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. Extending DeepTrio for sensitive detection of complexNAR genomics and bioinformatics · 2024
    Article
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

13 authors.

Fabian BrandInstitute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany. fabrand@uni-bonn.de.
Hannah KlinkhammerInstitute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany.
Alexej KnausInstitute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany.
Manuel HoltgreweCore Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.
Leonie WeinholdInstitute of Medical Biometry, Informatics and Epidemiology, University Hopsital Bonn, Bonn, Germany.
Dieter BeuleCore Unit Bioinformatics, Berlin Institute of Health, Berlin, Germany.
Kerstin LudwigInstitute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany.
Prachi KothiyalInova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA.
George MaxwellInova Translational Medicine Institute, Inova Health System, Falls Church, VA, USA.
Markus NoethenInstitute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany.
Matthias SchmidInstitute of Medical Biometry, Informatics and Epidemiology, University Hopsital Bonn, Bonn, Germany.
Karl SperlingInstitute of Medical and Human Genetics, Charitè-Universitaetsmedizin, Berlin, Germany.
Peter KrawitzInstitute of Genomics Statistics and Bioinformatics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany. pkrawitz@uni-bonn.de.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The existence of transgenerational effects of radiation exposure on the human germline remains controversial. Evidence for transgenerational biomarkers are of particular interest for populations, who have been exposed to higher than average levels of ionizing radiation (IR). This study investigated signatures of parental exposure to IR in offspring of former German radar operators and Chernobyl cleanup workers, focusing on clustered de novo mutations (cDNMs), defined as multiple de novo mutations (DNMs) within 20 bp. We recruited 110 offspring of former German radar operators, who were likely to have been exposed to IR (Radar cohort, exposure = 0-353 mGy), and reanalyzed sequencing data of 130 offspring of Chernobyl cleanup workers (CRU, exposure = 0-4080 mGy) from Yeager, et al. In addition, we analyzed whole genome trio data of 1275 offspring from unexposed families (Inova cohort). We observed on average 2.65 cDNMs (0.61 adjusted for the positive predictive value (PPV)) per offspring in the CRU cohort, 1.48 (0.34 PPV) in the Radar cohort and 0.88 (0.20 PPV) in the Inova cohort. Although under the condition that the proportion of true mutations is low in this analysis, this represented a significant increase ([Formula: see text]) of cDNMs counts, that scaled with paternal exposure to IR ([Formula: see text]). Our findings corroborate that cDNMs are a potential transgenerational biomarker of paternal IR exposure.

Indexed as

MutationRadiation ExposureRadiation, IonizingAdultChernobyl Nuclear AccidentCohort StudiesFemaleGerm-Line MutationHumansMaleOccupational Exposure

Identifiers

PMID40550869
PMCPMC12185716

What OpenQuestion holds

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Registered trials

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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.