Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine

Idiopathic pulmonary fibrosis (IPF) is a chronic, rare progressive lung disease, characterized by lung scarring and the irreversible loss of lung function. Two anti-fibrotic drugs, nintedanib and pirfenidone, have been demonstrated to slow down disease progression, although IPF mortality remains a c...

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Authors: Alonso González, Aitana, Tosco Herrera, Eva, Molina Molina, María, Flores, Carlos
Format: article
Status:Published version
Publication Date:2023
Country:España
Institution:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repository:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:2445/200904
Online Access:https://hdl.handle.net/2445/200904
Access Level:Open access
Keyword:Genètica
Fibrosi pulmonar
Genetics
Pulmonary fibrosis
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spelling Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicineAlonso González, AitanaTosco Herrera, EvaMolina Molina, MaríaFlores, CarlosGenèticaFibrosi pulmonarGeneticsPulmonary fibrosisIdiopathic pulmonary fibrosis (IPF) is a chronic, rare progressive lung disease, characterized by lung scarring and the irreversible loss of lung function. Two anti-fibrotic drugs, nintedanib and pirfenidone, have been demonstrated to slow down disease progression, although IPF mortality remains a challenge and the patients die after a few years from diagnosis. Rare pathogenic variants in genes that are involved in the surfactant metabolism and telomere maintenance, among others, have a high penetrance and tend to co-segregate with the disease in families. Common recurrent variants in the population with modest effect sizes have been also associated with the disease risk and progression. Genome-wide association studies (GWAS) support at least 23 genetic risk loci, linking the disease pathogenesis with unexpected molecular pathways including cellular adhesion and signaling, wound healing, barrier function, airway clearance, and innate immunity and host defense, besides the surfactant metabolism and telomere biology. As the cost of high-throughput genomic technologies continuously decreases and new technologies and approaches arise, their widespread use by clinicians and researchers is efficiently contributing to a better understanding of the pathogenesis of progressive pulmonary fibrosis. Here we provide an overview of the genetic factors known to be involved in IPF pathogenesis and discuss how they will continue to further advance in this field. We also discuss how genomic technologies could help to further improve IPF diagnosis and prognosis as well as for assessing genetic risk in unaffected relatives. The development and validation of evidence-based guidelines for genetic-based screening of IPF will allow redefining and classifying this disease relying on molecular characteristics and contribute to the implementation of precision medicine approaches.Frontiers Media SA2023202320232023info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion19 p.application/pdfhttps://hdl.handle.net/2445/200904Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésReproducció del document publicat a: https://doi.org/10.3389/fmed.2023.1152211Frontiers in Medicine, 2023, vol. 10https://doi.org/10.3389/fmed.2023.1152211cc by (c) Alonso González, Aitana et al, 2023http://creativecommons.org/licenses/by/3.0/es/info:eu-repo/semantics/openAccessoai:recercat.cat:2445/2009042026-05-29T05:05:01Z
dc.title.none.fl_str_mv Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
title Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
spellingShingle Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
Alonso González, Aitana
Genètica
Fibrosi pulmonar
Genetics
Pulmonary fibrosis
title_short Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
title_full Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
title_fullStr Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
title_full_unstemmed Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
title_sort Idiopathic pulmonary fibrosis and the role of genetics in the era of precision medicine
dc.creator.none.fl_str_mv Alonso González, Aitana
Tosco Herrera, Eva
Molina Molina, María
Flores, Carlos
author Alonso González, Aitana
author_facet Alonso González, Aitana
Tosco Herrera, Eva
Molina Molina, María
Flores, Carlos
author_role author
author2 Tosco Herrera, Eva
Molina Molina, María
Flores, Carlos
author2_role author
author
author
dc.subject.none.fl_str_mv Genètica
Fibrosi pulmonar
Genetics
Pulmonary fibrosis
topic Genètica
Fibrosi pulmonar
Genetics
Pulmonary fibrosis
description Idiopathic pulmonary fibrosis (IPF) is a chronic, rare progressive lung disease, characterized by lung scarring and the irreversible loss of lung function. Two anti-fibrotic drugs, nintedanib and pirfenidone, have been demonstrated to slow down disease progression, although IPF mortality remains a challenge and the patients die after a few years from diagnosis. Rare pathogenic variants in genes that are involved in the surfactant metabolism and telomere maintenance, among others, have a high penetrance and tend to co-segregate with the disease in families. Common recurrent variants in the population with modest effect sizes have been also associated with the disease risk and progression. Genome-wide association studies (GWAS) support at least 23 genetic risk loci, linking the disease pathogenesis with unexpected molecular pathways including cellular adhesion and signaling, wound healing, barrier function, airway clearance, and innate immunity and host defense, besides the surfactant metabolism and telomere biology. As the cost of high-throughput genomic technologies continuously decreases and new technologies and approaches arise, their widespread use by clinicians and researchers is efficiently contributing to a better understanding of the pathogenesis of progressive pulmonary fibrosis. Here we provide an overview of the genetic factors known to be involved in IPF pathogenesis and discuss how they will continue to further advance in this field. We also discuss how genomic technologies could help to further improve IPF diagnosis and prognosis as well as for assessing genetic risk in unaffected relatives. The development and validation of evidence-based guidelines for genetic-based screening of IPF will allow redefining and classifying this disease relying on molecular characteristics and contribute to the implementation of precision medicine approaches.
publishDate 2023
dc.date.none.fl_str_mv 2023
2023
2023
2023
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/200904
url https://hdl.handle.net/2445/200904
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Reproducció del document publicat a: https://doi.org/10.3389/fmed.2023.1152211
Frontiers in Medicine, 2023, vol. 10
https://doi.org/10.3389/fmed.2023.1152211
dc.rights.none.fl_str_mv cc by (c) Alonso González, Aitana et al, 2023
http://creativecommons.org/licenses/by/3.0/es/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv cc by (c) Alonso González, Aitana et al, 2023
http://creativecommons.org/licenses/by/3.0/es/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv 19 p.
application/pdf
dc.publisher.none.fl_str_mv Frontiers Media SA
publisher.none.fl_str_mv Frontiers Media SA
dc.source.none.fl_str_mv Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
reponame_str Recercat. Dipósit de la Recerca de Catalunya
collection Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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