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Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes

Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the exocrine pancreatic status, most studies agree that there is...

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Autores principales: Mésinèle, Julie, Ruffin, Manon, Guillot, Loïc, Corvol, Harriet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9698440/
https://www.ncbi.nlm.nih.gov/pubmed/36430680
http://dx.doi.org/10.3390/ijms232214205
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author Mésinèle, Julie
Ruffin, Manon
Guillot, Loïc
Corvol, Harriet
author_facet Mésinèle, Julie
Ruffin, Manon
Guillot, Loïc
Corvol, Harriet
author_sort Mésinèle, Julie
collection PubMed
description Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the exocrine pancreatic status, most studies agree that there is little association between CFTR variants and disease phenotypes. Environmental factors have been shown to contribute to this heterogeneity, accounting for almost 50% of the variability of the lung function of pwCF. Nevertheless, pwCF with similar CFTR variants and sharing the same environment (such as in siblings) may have highly variable clinical manifestations not explained by CFTR variants, and only partly explained by environmental factors. It is recognized that genetic variants located outside the CFTR locus, named “modifier genes”, influence the clinical expression of the disease. This short review discusses the latest studies that have described modifier factors associated with the various CF phenotypes as well as the response to the recent CFTR modulator therapies.
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spelling pubmed-96984402022-11-26 Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes Mésinèle, Julie Ruffin, Manon Guillot, Loïc Corvol, Harriet Int J Mol Sci Review Although cystic fibrosis (CF) is recognized as a monogenic disease, due to variants within the CFTR (Cystic Fibrosis Transmembrane Regulator) gene, an extreme clinical heterogeneity is described among people with CF (pwCF). Apart from the exocrine pancreatic status, most studies agree that there is little association between CFTR variants and disease phenotypes. Environmental factors have been shown to contribute to this heterogeneity, accounting for almost 50% of the variability of the lung function of pwCF. Nevertheless, pwCF with similar CFTR variants and sharing the same environment (such as in siblings) may have highly variable clinical manifestations not explained by CFTR variants, and only partly explained by environmental factors. It is recognized that genetic variants located outside the CFTR locus, named “modifier genes”, influence the clinical expression of the disease. This short review discusses the latest studies that have described modifier factors associated with the various CF phenotypes as well as the response to the recent CFTR modulator therapies. MDPI 2022-11-17 /pmc/articles/PMC9698440/ /pubmed/36430680 http://dx.doi.org/10.3390/ijms232214205 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
Mésinèle, Julie
Ruffin, Manon
Guillot, Loïc
Corvol, Harriet
Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
title Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
title_full Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
title_fullStr Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
title_full_unstemmed Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
title_short Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes
title_sort modifier factors of cystic fibrosis phenotypes: a focus on modifier genes
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9698440/
https://www.ncbi.nlm.nih.gov/pubmed/36430680
http://dx.doi.org/10.3390/ijms232214205
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