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Article

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

BMJ open respiratory research - 10 Feb 2026

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

Abstract excerpt

BACKGROUND: Pulmonary 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. METHODS: Copy number on chromosome Y was used to estimate mLOY comparing patients in PROFILE and gnomAD...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 41672577
DOI: 10.1136/bmjresp-2025-003846
PMCID: PMC12911719

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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