Evidence map›Paper›PMID 24777449›Full record

ArticleNature genetics2014

Mosaic loss of chromosome Y in peripheral blood is associated with shorter survival and higher risk of cancer.

Lars A Forsberg, Chiara Rasi, Niklas Malmqvist, Hanna Davies, Saichand Pasupulati, Geeta Pakalapati, Johanna Sandgren, Teresita Diaz de Ståhl, Ammar Zaghlool, Vilmantas Giedraitis and 10 more

Abstract read
In one paragraph

Article in Nature genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 302 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
302citing papers in PubMed, 3 pooled it
–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

302 citing papers in PubMed, 3 syntheses or guidelines pooled it.

  1. Pooled it
  2. Mosaic Chromosomal Alterations and Human Longevity.The journals of gerontology. Series A, Biological sciences and medical sciences · 2023
    Pooled it
  3. Pooled it
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  6. Genetic mechanisms of mitotic error in 840,853 blood genomes.medRxiv : the preprint server for health sciences · 2026
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242 more citing papers are in PubMed but not listed here.

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

20 authors.

Lars A Forsberg1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Chiara Rasi1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Niklas Malmqvist1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden. [3] Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Hanna Davies1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Saichand Pasupulati1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Geeta Pakalapati1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Johanna SandgrenDepartment of Oncology-Pathology, Cancer Center Karolinska, Karolinska Institutet, Stockholm, Sweden.
Teresita Diaz de StåhlDepartment of Oncology-Pathology, Cancer Center Karolinska, Karolinska Institutet, Stockholm, Sweden.
Ammar Zaghlool1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden.
Vilmantas GiedraitisDepartment of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.
Lars LannfeltDepartment of Public Health and Caring Sciences, Uppsala University, Uppsala, Sweden.
Joannah ScoreFaculty of Medicine, University of Southampton, Southampton, UK.
Nicholas C P CrossFaculty of Medicine, University of Southampton, Southampton, UK.
Devin AbsherHudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA.
Eva Tiensuu JansonDepartment of Medical Sciences, Uppsala University, Uppsala, Sweden.
Cecilia M Lindgren1] Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK. [2] Broad Institute of MIT and Harvard University, Cambridge, Massachusetts, USA.
Andrew P MorrisWellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.
Erik Ingelsson1] Science for Life Laboratory, Uppsala University, Uppsala, Sweden. [2] Department of Medical Sciences, Uppsala University, Uppsala, Sweden.
Lars LindDepartment of Medical Sciences, Uppsala University, Uppsala, Sweden.
Jan P Dumanski1] Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden. [2] Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Funding

Wellcome Trust 086596/Z/08/ZWellcome Trust 090532Wellcome Trust 098017Wellcome Trust WT064890
6 · The paper itself

Abstract

Incidence and mortality for sex-unspecific cancers are higher among men, a fact that is largely unexplained. Furthermore, age-related loss of chromosome Y (LOY) is frequent in normal hematopoietic cells, but the phenotypic consequences of LOY have been elusive. From analysis of 1,153 elderly men, we report that LOY in peripheral blood was associated with risks of all-cause mortality (hazards ratio (HR) = 1.91, 95% confidence interval (CI) = 1.17-3.13; 637 events) and non-hematological cancer mortality (HR = 3.62, 95% CI = 1.56-8.41; 132 events). LOY affected at least 8.2% of the subjects in this cohort, and median survival times among men with LOY were 5.5 years shorter. Association of LOY with risk of all-cause mortality was validated in an independent cohort (HR = 3.66) in which 20.5% of subjects showed LOY. These results illustrate the impact of post-zygotic mosaicism on disease risk, could explain why males are more frequently affected by cancer and suggest that chromosome Y is important in processes beyond sex determination. LOY in blood could become a predictive biomarker of male carcinogenesis.

Indexed as

MosaicismAgedAged, 80 and overBiomarkers, TumorChromosome AberrationsChromosomes, Human, YCohort StudiesGene DeletionGenetic VariationGenotypeHumansMaleMiddle AgedNeoplasmsPhenotypeProportional Hazards ModelsBiomarkers, Tumor

Identifiers

PMID24777449
PMCPMC5536222

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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.