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Interaction between the promoter MUC5B polymorphism and mucin expression: is there a difference according to ILD subtype?
  1. Carmel J Stock1,
  2. Caterina Conti2,
  3. Ángeles Montero-Fernandez3,
  4. Gaetano Caramori4,
  5. Philip L Molyneaux1,
  6. Peter M George1,
  7. Maria Kokosi1,
  8. Vaslis Kouranos1,
  9. Toby M Maher1,
  10. Felix Chua1,
  11. Alexandra Rice3,
  12. Christopher P Denton5,
  13. Andrew G Nicholson3,
  14. Athol Wells1,
  15. Piersante Sestini6,
  16. Elisabetta A Renzoni1
  1. 1 Interstitial Lung Disease Unit, Royal Brompton and Harefield NHS Foundation Trust/ National Heart and Lung Institute, Imperial College, London, UK
  2. 2 Respiratory Unit ASST, Ospedale Papa Giovanni XXIII, Bergamo, Italy
  3. 3 Department of Histopathology, Royal Brompton and Harefield NHS Foundation Trust/ National Heart and Lung Institute, Imperial College, London, UK
  4. 4 UOC di Pneumologia, Dipartimento di Scienze Biomediche, Odontoiatriche e delle Immagini Morfologiche e Funzionali (BIOMORF), Università di Messina, Messina, Italy
  5. 5 Centre for Rheumatology and Connective Tissue Diseases, University College London Medical School, London, UK
  6. 6 Department of Medical and Surgical Sciences and Neurosciences, University of Siena, Siena, Toscana, Italy
  1. Correspondence to Dr Carmel J Stock, Interstitial Lung Disease Unit, Royal Brompton and Harefield NHS Foundation Trust/ National Heart and Lung Institute, Imperial College, London SW3 6NP, UK; c.stock{at}imperial.ac.uk

Abstract

The MUC5B promoter variant rs35705950 is associated with idiopathic pulmonary fibrosis (IPF). MUC5B glycoprotein is overexpressed in IPF lungs. We examined immunohistochemical expression of MUC5B in different interstitial lung disease patterns according to rs35705950 T-allele carriage. We observed increased expression of MUC5B in T-allele carriers in both distal airways and honeycomb cysts in patients with IPF (n=23), but no difference in MUC5B expression according to T-carrier status in the distal airways of patients with idiopathic non-specific interstitial pneumonitis (n=17), in scleroderma-associated non-specific interstitial pneumonitis (n=15) or in control lungs (n=20), suggesting that tissue overexpression in MUC5B rs35705950 T-carriers is specific to IPF.

  • idiopathic pulmonary fibrosis
  • interstitial fibrosis
  • systemic disease and lungs

https://doi.org/10.1136/thoraxjnl-2020-214579

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    Footnotes

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Patient consent for publication Not required.

    • Provenance and peer review Not commissioned; externally peer reviewed.

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