Evidence map›Paper›PMID 31654039›Full record

ArticleEuropean journal of human genetics : EJHG2020

Longitudinal changes in the frequency of mosaic chromosome Y loss in peripheral blood cells of aging men varies profoundly between individuals.

Marcus Danielsson, Jonatan Halvardson, Hanna Davies, Behrooz Torabi Moghadam, Jonas Mattisson, Edyta Rychlicka-Buniowska, Janusz Jaszczyński, Julia Heintz, Lars Lannfelt, Vilmantas Giedraitis and 3 more

Registry-linked trialOpen access · hybridAbstract read
In one paragraph

Article in European journal of human genetics : EJHG, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05072353 (Autologous Adipose Tissue Harvested With Superficial Enhanced Fluid Fat Injection), which is not on this map. Cited by 64 papers.

0numbers the graph read from it
0cells of the map it votes in
64citing papers in PubMed
5.9field-weighted citation impact, top 3% 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.

NCT05072353 naunknown statusnot on this mapstarted 2021, after this paper: background citation

Autologous Adipose Tissue Harvested With Superficial Enhanced Fluid Fat Injection (SEFFICARE) Method for Treatment of Diabetic Foot Ulcer Undergoing Minor Amputation (SEFFIDiFA): Proposal of Basic Research and Prospective Observational Study

TypeinterventionalSponsorAzienda Ospedaliero-Universitaria di ModenaRan2021 to 2024Enrolled40ConditionsDiabetic Foot, Diabetic Foot Ulcer, AmputationArmsSEFFICARE
3 · Its place in the literature

Who cites it

64 citing papers in PubMed, 93 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Molecular Age Estimation: Current Perspectives and Future Considerations.International journal of molecular sciences · 2026
    Review
  9. Article
  10. Review
  11. Article
  12. Article
  13. Beyond XX and XY, Understanding Sex Differences in Leukemia.Medical sciences (Basel, Switzerland) · 2026
    Review
  14. Article
  15. Article
  16. Article
  17. Article
  18. Observational
  19. Article
  20. Review

4 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 2 institutions in 2 countries.

Marcus DanielssonDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden. marcus.danielsson@igp.uu.se.ORCID http://orcid.org/0000-0003-4418-0165
Jonatan HalvardsonDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Hanna DaviesDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Behrooz Torabi MoghadamDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Jonas MattissonDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.ORCID http://orcid.org/0000-0002-4456-9667
Edyta Rychlicka-BuniowskaDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Janusz JaszczyńskiDepartment of Urology, Maria Sklodowska-Curie Memorial Cancer Centre and Institute of Oncology, Kraków Branch, Kraków, Poland.
Julia HeintzDepartment of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Lars LannfeltDepartment of Public Health and Caring Sciences/Geriatrics, Uppsala University, 751 85, Uppsala, Sweden.
Vilmantas GiedraitisDepartment of Public Health and Caring Sciences/Geriatrics, Uppsala University, 751 85, Uppsala, Sweden.
Martin IngelssonDepartment of Public Health and Caring Sciences/Geriatrics, Uppsala University, 751 85, Uppsala, Sweden.
Jan P Dumanski *Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Lars A Forsberg *Department of Immunology, Genetics and Pathology and Science for Life Laboratory, Uppsala University, Uppsala, Sweden. lars.forsberg@igp.uu.se.ORCID http://orcid.org/0000-0002-1701-755X
Uppsala University · SEThe Maria Sklodowska-Curie National Research Institute of Oncology · PL

Funding

EC | EU Framework Programme for Research and Innovation H2020 | H2020 Priority Excellent Science | H2020 European Research Council (H2020 Excellent Science - European Research Council) 679744Vetenskapsrådet (Swedish Research Council) 2017-03762
6 · The paper itself

Abstract

Mosaic loss of chromosome Y (LOY) is the most common somatic genetic aberration and is associated with increased risk for all-cause mortality, various forms of cancer and Alzheimer's disease, as well as other common human diseases. By tracking LOY frequencies in subjects from which blood samples have been serially collected up to five times during up to 22 years, we observed a pronounced intra-individual variation of changes in the frequency of LOY within individual men over time. We observed that in some individuals the frequency of LOY in blood clearly progressed over time and that in other men, the frequency was constant or showed other types of longitudinal development. The predominant method used for estimating LOY is calculation of the median Log R Ratio of probes located in the male specific part of chromosome Y (mLRRY) from intensity data generated by SNP-arrays, which is difficult to interpret due to its logarithmic and inversed scale. We present here a formula to transform mLRRY-values to percentage of LOY that is a more comprehensible unit. The formula was derived using measurements of LOY from matched samples analysed using SNP-array, whole genome sequencing and a new AMELX/AMELY-based assay for droplet digital PCR. The methods described could be applied for analyses of the vast amount of SNP-array data already generated in the scientific community, allowing further discoveries of LOY associated diseases and outcomes.

Indexed as

Chromosome DeletionMosaicismPolymorphism, GeneticAgingBlood CellsChromosomes, Human, YHumansMale

Identifiers

PMID31654039
PMCPMC7028735
OpenAlexW2981923411

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

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.