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

Our 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.

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Publication Details

Journal
BMJ Open Respiratory Research
Published
2026-02-01
DOI
https://doi.org/10.1136/bmjresp-2025-003846
Primary Topic
Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Jonathan A. Kropski, I M Stewart, Samuel Moss, Paul J. Wolters et al.
BMJ Open Respiratory Research
Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
article

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

Jonathan A. Kropski, I M Stewart, Samuel Moss, Paul J. Wolters, Philip L. Molyneaux, Dapeng Wang, John R. B. Perry, Toby M. Maher, Simon R Johnson, Niran Hadad, Yajie Zhao, R Gisli Jenkins, Nicholas E Banovich, Elena Lopez-Jimenez
article en

Abstract

Our 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.

BMJ Open Respiratory ResearchVol. 13(1)
University of Southern California (US), Translational Genomics Research Institute (US), University of Nottingham (GB), University of California, San Francisco (US), Vanderbilt University (US), University of Cambridge (GB), Wellcome/MRC Institute of Metabolic Science (GB), Nottingham Biomedical Research Centre (GB), MRC Epidemiology Unit (GB), China University of Petroleum, East China (CN), Imperial College London (GB), Vanderbilt University Medical Center (US)
Wellcome Trust, Cancer Research UK, National Institute for Health and Care Research, Department of Health and Social Care, Medical Research Council
Openalex Percentile: Top 63%
Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
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Assessment of mosaic loss of chromosome Y in pulmonary fibrosis reveals limited association with susceptibility or disease severity — Jonathan A. Kropski, I M Stewart, et al. · BMJ Open Respiratory Research (2026) | TGRS Research Map | TGRS