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Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective

Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in IPF. Perspecti...

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Autores principales: Papiris, Spyros A., Kannengiesser, Caroline, Borie, Raphael, Kolilekas, Lykourgos, Kallieri, Maria, Apollonatou, Vasiliki, Ba, Ibrahima, Nathan, Nadia, Bush, Andrew, Griese, Matthias, Dieude, Philippe, Crestani, Bruno, Manali, Effrosyni D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777433/
https://www.ncbi.nlm.nih.gov/pubmed/36552935
http://dx.doi.org/10.3390/diagnostics12122928
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author Papiris, Spyros A.
Kannengiesser, Caroline
Borie, Raphael
Kolilekas, Lykourgos
Kallieri, Maria
Apollonatou, Vasiliki
Ba, Ibrahima
Nathan, Nadia
Bush, Andrew
Griese, Matthias
Dieude, Philippe
Crestani, Bruno
Manali, Effrosyni D.
author_facet Papiris, Spyros A.
Kannengiesser, Caroline
Borie, Raphael
Kolilekas, Lykourgos
Kallieri, Maria
Apollonatou, Vasiliki
Ba, Ibrahima
Nathan, Nadia
Bush, Andrew
Griese, Matthias
Dieude, Philippe
Crestani, Bruno
Manali, Effrosyni D.
author_sort Papiris, Spyros A.
collection PubMed
description Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in IPF. Perspective: It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease. Genetics in IPF have contributed as no other in unchaining the disease from the dogma of a “a sporadic entity of the elderly, limited to the lungs” and allowed all scientists, but mostly clinicians, all over the world to consider its many aspects and “faces” in all age groups, including its co-existence with several extra pulmonary conditions from cutaneous albinism to bone-marrow and liver failure. Conclusion: By providing additional evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient, genetics have created a generous and pluralistic yet unifying platform that could lead to the understanding of the injurious and pro-fibrotic effects of many seemingly unrelated extrinsic and intrinsic offending factors. The same platform constantly instructs us about our limitations as well as about the heritability, the knowledge and the wisdom that is still missing.
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spelling pubmed-97774332022-12-23 Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective Papiris, Spyros A. Kannengiesser, Caroline Borie, Raphael Kolilekas, Lykourgos Kallieri, Maria Apollonatou, Vasiliki Ba, Ibrahima Nathan, Nadia Bush, Andrew Griese, Matthias Dieude, Philippe Crestani, Bruno Manali, Effrosyni D. Diagnostics (Basel) Review Background: Unraveling the genetic background in a significant proportion of patients with both sporadic and familial IPF provided new insights into the pathogenic pathways of pulmonary fibrosis. Aim: The aim of the present study is to overview the clinical significance of genetics in IPF. Perspective: It is fascinating to realize the so-far underestimated but dynamically increasing impact that genetics has on aspects related to the pathophysiology, accurate and early diagnosis, and treatment and prevention of this devastating disease. Genetics in IPF have contributed as no other in unchaining the disease from the dogma of a “a sporadic entity of the elderly, limited to the lungs” and allowed all scientists, but mostly clinicians, all over the world to consider its many aspects and “faces” in all age groups, including its co-existence with several extra pulmonary conditions from cutaneous albinism to bone-marrow and liver failure. Conclusion: By providing additional evidence for unsuspected characteristics such as immunodeficiency, impaired mucus, and surfactant and telomere maintenance that very often co-exist through the interaction of common and rare genetic variants in the same patient, genetics have created a generous and pluralistic yet unifying platform that could lead to the understanding of the injurious and pro-fibrotic effects of many seemingly unrelated extrinsic and intrinsic offending factors. The same platform constantly instructs us about our limitations as well as about the heritability, the knowledge and the wisdom that is still missing. MDPI 2022-11-23 /pmc/articles/PMC9777433/ /pubmed/36552935 http://dx.doi.org/10.3390/diagnostics12122928 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Papiris, Spyros A.
Kannengiesser, Caroline
Borie, Raphael
Kolilekas, Lykourgos
Kallieri, Maria
Apollonatou, Vasiliki
Ba, Ibrahima
Nathan, Nadia
Bush, Andrew
Griese, Matthias
Dieude, Philippe
Crestani, Bruno
Manali, Effrosyni D.
Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
title Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
title_full Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
title_fullStr Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
title_full_unstemmed Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
title_short Genetics in Idiopathic Pulmonary Fibrosis: A Clinical Perspective
title_sort genetics in idiopathic pulmonary fibrosis: a clinical perspective
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9777433/
https://www.ncbi.nlm.nih.gov/pubmed/36552935
http://dx.doi.org/10.3390/diagnostics12122928
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