Evidence map›Paper›PMID 41672577›Full record

ArticleBMJ open respiratory research2026

Assessment of mosaic loss of chromosome Y in pulmonary fibrosis reveals limited association with susceptibility or disease severity.

Dapeng Wang, Niran Hadad, Samuel Moss, Elena Lopez-Jimenez, Simon R Johnson, Toby M Maher, Philip L Molyneaux, Yajie Zhao, John R B Perry, Paul J Wolters and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMJ open respiratory research, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

14 authors.

Dapeng WangNational Heart and Lung Institute, Imperial College London, London, UK dapeng.wang@upc.edu.cn.ORCID http://orcid.org/0000-0002-9925-4574
Niran HadadTranslational Genomics Research Institute, Phoenix, Arizona, USA.
Samuel MossNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-1872-9110
Elena Lopez-JimenezNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-5179-5195
Simon R JohnsonCentre for Respiratory Research, NIHR Biomedical Research Centre and Biodiscovery Institute, Translational Medical Sciences, University of Nottingham, Nottingham, UK.ORCID http://orcid.org/0000-0002-9837-2763
Toby M MaherNational Heart and Lung Institute, Imperial College London, London, UK.
Philip L MolyneauxNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0003-1301-8800
Yajie ZhaoMRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
John R B PerryMRC Epidemiology Unit, Wellcome-MRC Institute of Metabolic Science, University of Cambridge School of Clinical Medicine, Cambridge, UK.
Paul J WoltersDepartment of Medicine, University of California, San Francisco, California, USA.
Jonathan A KropskiDivision of Allergy, Pulmonary and Critical Care Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA.
R Gisli JenkinsNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-7929-2119
Nicholas E BanovichTranslational Genomics Research Institute, Phoenix, Arizona, USA.
Iain StewartNational Heart and Lung Institute, Imperial College London, London, UK.ORCID http://orcid.org/0000-0002-1340-2688

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPulmonary fibrosis (PF) is a rare lung disease with diverse pathogenesis and biological mechanisms. Mosaic loss of chromosome Y (mLOY) has been reported to be associated with increased risk of fibrotic diseases. However, the exact role of mLOY in the development of PF remains to be elucidated.

methodsCopy number on chromosome Y was used to estimate mLOY comparing patients in PROFILE and gnomAD cohorts and between cases and control patients from the GE100KGP cohort. Correlation of mLOY with demographic and clinical variables was tested using patients from the PROFILE cohort. Lung single-cell transcriptomic data were analysed to assess the cell types implicated in mLOY. Mendelian randomisation was performed to examine the causal relationship between mLOY, idiopathic pulmonary fibrosis (IPF) and telomere length.

resultsThe genetic analysis suggests that mLOY is found in PF from both case cohorts but when compared with an age matched population the effect is minimal (p=0.00316, median: 0.288 vs 0.291). mLOY is related to age (p=0.000214) and shorter telomere length (p=0.00815) rather than PF severity or progression. Single-cell analysis indicates that mLOY appears to be found primarily in immune cells. Mendelian randomisation demonstrates that mLOY is not on the causal pathway for IPF, but partial evidence supports that telomere shortening is on the causal pathway for mLOY.

conclusionsOur study confirms the existence of mLOY in PF patients, suggests that mLOY is not a major driver of IPF, and might support a triangulation model where telomere shortening leads to both IPF and mLOY.

Indexed as

Chromosomes, Human, YIdiopathic Pulmonary FibrosisMosaicismPulmonary FibrosisAgedCase-Control StudiesDisease ProgressionFemaleGenetic Predisposition to DiseaseHumansMaleMendelian Randomization AnalysisMiddle AgedSeverity of Illness IndexIdiopathic Pulmonary Fibrosis

Identifiers

PMID41672577
PMCPMC12911719

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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.