Evidence map›Paper›PMID 32561805›Full record

ArticleScientific reports2020

Germline mutation rates in young adults predict longevity and reproductive lifespan.

Richard M Cawthon, Huong D Meeks, Thomas A Sasani, Ken R Smith, Richard A Kerber, Elizabeth O'Brien, Lisa Baird, Melissa M Dixon, Andreas P Peiffer, Mark F Leppert and 2 more

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.9field-weighted citation impact, top 8% 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

18 citing papers in PubMed, 33 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. Population size interacts with reproductive longevity to shape the germline mutation rate.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  5. Article
  6. Article
  7. The Evolutionary Interplay of Somatic and Germline Mutation Rates.Annual review of biomedical data science · 2024
    Review
  8. Review
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  10. Article
  11. Article
  12. Article
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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

12 authors at 3 institutions in 1 country.

Richard M CawthonDepartment of Human Genetics, University of Utah, Salt Lake City, UT, United States. rcawthon@genetics.utah.edu.
Huong D Meeks *Population Science, Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT, United States.
Thomas A Sasani *Department of Human Genetics, University of Utah, Salt Lake City, UT, United States.
Ken R SmithPopulation Science, Huntsman Cancer Institute, University of Utah Health, Salt Lake City, UT, United States.
Richard A KerberDepartment of Health Management & Systems Sciences, University of Louisville, Louisville, KY, United States.
Elizabeth O'BrienDepartment of Health Management & Systems Sciences, University of Louisville, Louisville, KY, United States.
Lisa BairdDepartment of Human Genetics, University of Utah, Salt Lake City, UT, United States.
Melissa M DixonDepartment of Pediatrics, University of Utah, Salt Lake City, UT, United States.
Andreas P PeifferDepartment of Pediatrics, University of Utah, Salt Lake City, UT, United States.
Mark F LeppertDepartment of Human Genetics, University of Utah, Salt Lake City, UT, United States.
Aaron R QuinlanDepartment of Human Genetics, University of Utah, Salt Lake City, UT, United States.
Lynn B JordeDepartment of Human Genetics, University of Utah, Salt Lake City, UT, United States.
University of Utah · USHuntsman Cancer Institute · USUniversity of Louisville · US

Funding

Utah Center for Clinical and Translational ScienceUL1TR002538 · NCATS · UNIVERSITY OF UTAH · PI HESS, RACHEL, MAJERSIK, JENNIFER JUHL · 2018 to 2022
$26.0M
The Utah Study of Fertility, Longevity and AgingR01AG022095 · NIA · UNIVERSITY OF UTAH · PI SMITH, KEN R · 2003 to 2015
$9.4M
TRAINING PROGRAM IN GENETICST32GM007464 · NIGMS · UNIVERSITY OF UTAH · PI GRUNWALD, DAVID J., STANFIELD, GILLIAN · 1985 to 2020
$6.1M
Human Genetic Variation and DiseaseR35GM118335 · NIGMS · UTAH STATE HIGHER EDUCATION SYSTEM--UNIVERSITY OF UTAH · PI JORDE, LYNN · 2016 to 2025
$5.1M
New algorithms and tools for large-scale genomic analysesR01HG006693 · NHGRI · UNIVERSITY OF VIRGINIA · PI QUINLAN, AARON R · 2012 to 2018
$3.1M
A powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M
Software for exploring all forms of genetic variation in any speciesR01GM124355 · NIGMS · UNIVERSITY OF UTAH · PI QUINLAN, AARON R · 2017 to 2020
$1.8M
Mitochondrial genetics of exceptional longevity in multigeneration matrilineagesR01AG038797 · NIA · UNIVERSITY OF UTAH · PI CAWTHON, RICHARD MOORE · 2011 to 2015
$1.5M
Novel Quantitative PCR Assays of Telomeric DNAR21AG054962 · NIA · UNIVERSITY OF UTAH · PI CAWTHON, RICHARD MOORE · 2017 to 2018
$417k
Howard Hughes Medical InstituteNCATS NIH HHS UL1 TR002538NHGRI NIH HHS R01 HG006693NHGRI NIH HHS R01 HG009141NIA NIH HHS R01 AG022095NIA NIH HHS R01 AG038797NIA NIH HHS R21 AG054962NIGMS NIH HHS R01 GM124355NIGMS NIH HHS R35 GM118335NIGMS NIH HHS T32 GM007464
6 · The paper itself

Abstract

Ageing may be due to mutation accumulation across the lifespan, leading to tissue dysfunction, disease, and death. We tested whether germline autosomal mutation rates in young adults predict their remaining survival, and, for women, their reproductive lifespans. Age-adjusted mutation rates (AAMRs) in 61 women and 61 men from the Utah CEPH (Centre d'Etude du Polymorphisme Humain) families were determined. Age at death, cause of death, all-site cancer incidence, and reproductive histories were provided by the Utah Population Database, Utah Cancer Registry, and Utah Genetic Reference Project. Higher AAMRs were significantly associated with higher all-cause mortality in both sexes combined. Subjects in the top quartile of AAMRs experienced more than twice the mortality of bottom quartile subjects (hazard ratio [HR], 2.07; 95% confidence interval [CI], 1.21-3.56; p = 0.008; median survival difference = 4.7 years). Fertility analyses were restricted to women whose age at last birth (ALB) was ≥ 30 years, the age when fertility begins to decline. Women with higher AAMRs had significantly fewer live births and a younger ALB. Adult germline mutation accumulation rates are established in adolescence, and later menarche in women is associated with delayed mutation accumulation. We conclude that germline mutation rates in healthy young adults may provide a measure of both reproductive and systemic ageing. Puberty may induce the establishment of adult mutation accumulation rates, just when DNA repair systems begin their lifelong decline.

Indexed as

Germ-Line MutationMutation RateFemaleFertilityHumansLive BirthLongevityMalePregnancyRegistriesReproductionReproductive HistorySurvival AnalysisUtahYoung Adult

Identifiers

PMID32561805
PMCPMC7305191
OpenAlexW3035849436

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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.