Gene modifiers of cystic fibrosis lung disease: A systematic review.

Cystic Fibrosis / classification Genome-Wide Association Study Humans Mutation Patient Acuity Whole Genome Sequencing
cystic fibrosis epigenomics gene expression genes modifier

Journal

Pediatric pulmonology
ISSN: 1099-0496
Titre abrégé: Pediatr Pulmonol
Pays: United States
ID NLM: 8510590

Informations de publication

Date de publication:
09 2019
Historique:
received: 09 01 2019
revised: 03 05 2019
accepted: 05 05 2019
pubmed: 30 5 2019
medline: 9 4 2020
entrez: 30 5 2019
Statut: ppublish

Résumé

Lung disease is the major source of morbidity and mortality in cystic fibrosis (CF), with large variability in severity between patients. Although accurate prediction of lung disease severity would be extremely useful, no robust methods exist. Twin and sibling studies have highlighted the importance of non-cystic fibrosis transmembrane conductance regulator (CFTR) genes in determining lung disease severity but how these impact on the severity in CF remains unclear. A systematic review was undertaken to answer the question "In patients with CF which non-CFTR genes modify the severity of lung disease?" The method for this systematic review was based upon the "Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)" statement, with a narrative synthesis of results planned. A total of 1168 articles were screened for inclusion, with 275 articles undergoing detailed assessment for inclusion. One hundred and forty articles were included. Early studies focused on candidate genes, whereas more recent studies utilized genome-wide approaches and also examined epigenetic mechanisms, gene expression, and therapeutic response. A large body of evidence regarding non-CFTR gene modifiers of lung disease severity has been generated, examining a wide array of genes. Limitations to existing studies include heterogeneity in outcome measures used, limited replication, and relative lack of clinical impact. Future work examining non-CFTR gene modifiers will have to overcome these limitations if gene modifiers are to have a meaningful role in the care of patients with CF.

Sections du résumé

BACKGROUND
Lung disease is the major source of morbidity and mortality in cystic fibrosis (CF), with large variability in severity between patients. Although accurate prediction of lung disease severity would be extremely useful, no robust methods exist. Twin and sibling studies have highlighted the importance of non-cystic fibrosis transmembrane conductance regulator (CFTR) genes in determining lung disease severity but how these impact on the severity in CF remains unclear.
METHODS
A systematic review was undertaken to answer the question "In patients with CF which non-CFTR genes modify the severity of lung disease?" The method for this systematic review was based upon the "Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA)" statement, with a narrative synthesis of results planned.
RESULTS
A total of 1168 articles were screened for inclusion, with 275 articles undergoing detailed assessment for inclusion. One hundred and forty articles were included. Early studies focused on candidate genes, whereas more recent studies utilized genome-wide approaches and also examined epigenetic mechanisms, gene expression, and therapeutic response.
DISCUSSION
A large body of evidence regarding non-CFTR gene modifiers of lung disease severity has been generated, examining a wide array of genes. Limitations to existing studies include heterogeneity in outcome measures used, limited replication, and relative lack of clinical impact. Future work examining non-CFTR gene modifiers will have to overcome these limitations if gene modifiers are to have a meaningful role in the care of patients with CF.

Identifiants

DOI: 10.1002/ppul.24366 PMID: 31140758
pubmed: 31140758
doi: 10.1002/ppul.24366
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't Systematic Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

1356-1366

Informations de copyright

© 2019 Wiley Periodicals, Inc.

Auteurs

Shivanthan Shanthikumar (S)

Respiratory and Sleep Medicine Department, Royal Children's Hospital, Melbourne, Australia.
Respiratory Diseases Department, Murdoch Children's Research Institute, Melbourne, Australia.
Department of Paediatrics, The University of Melbourne, Australia.
ORCID: 0000-0001-6000-3180

Melanie N Neeland (MN)

Department of Paediatrics, The University of Melbourne, Australia.
Centre of Food and Allergy Research, Murdoch Children's Research Institute, Melbourne, Australia.

Richard Saffery (R)

Department of Paediatrics, The University of Melbourne, Australia.
Cancer & Disease Epigenetics, Murdoch Children's Research Institute, Melbourne, Australia.

Sarath Ranganathan (S)

Respiratory and Sleep Medicine Department, Royal Children's Hospital, Melbourne, Australia.
Respiratory Diseases Department, Murdoch Children's Research Institute, Melbourne, Australia.
Department of Paediatrics, The University of Melbourne, Australia.

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Classifications MeSH

questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies néonatales › Mucoviscidose › Gene modifiers of cystic fibrosis lung...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Épidémiologie moléculaire › Étude d'association pangénomique › Gene modifiers of cystic fibrosis lung...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Gene modifiers of cystic fibrosis lung...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Gene modifiers of cystic fibrosis lung...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Méthodes épidémiologiques › Collecte de données › Enquêtes et questionnaires › Enquêtes de santé › Indicateurs d'état de santé › Acuité des besoins du patient › Gene modifiers of cystic fibrosis lung...
questionsmedicales.fr › Techniques d'investigation › Techniques génétiques › Analyse de séquence › Analyse de séquence d'ADN › Séquençage du génome entier › Gene modifiers of cystic fibrosis lung...