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Published (Version of record)CC BY V4.0, Open Access
Published (Version of record)CC BY V4.0, Open
Journal article
Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review
Human mutation, Vol.2024(1), pp.1-29
15/10/2024
PMID: 40225935
Appears in Recent Faculty of Health Publications
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Abstract
Cystic fibrosis (CF) is a complex monogenic disorder with a large variability in disease severity. Growing evidence suggests that the variation observed depends not only on variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene but also on modifier genes. Utilizing five databases (including CINAHL, PubMed, Science Direct, Scopus, and Web of Science), a systematic review was conducted to examine the current literature on the known impacts of genomic variations in modifier genes on the CF disease progression, severity, and therapeutic response. A total of 70 full-text articles describing over 80 gene modifiers associated with CF were selected. The modifier genes included genes associated with the CFTR interactome, the inflammatory response, microbial profiles, and other genes affecting the critical physiological pathways of multiple organ systems, such as the respiratory and gastrointestinal systems. Limitations of the existing literature embrace the lack of clinical studies investigating pharmacogenetic impacts and the significance of gene modifiers on the CF clinical picture, including a limited number of replication and validation studies. Further investigations into other potential gene modifiers using genome-wide association studies are needed to critically explore new therapeutic targets and provide a better understanding of the CF disease phenotype under specific drug treatments.
Details
- Title
- Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review
- Creators
- Anastasia Ward - Southern Cross UniversityRamil Mauleon - Southern Cross UniversityChee Y. Ooi - University of New South WalesNedeljka Rosic - Southern Cross University
- Publication Details
- Human mutation, Vol.2024(1), pp.1-29
- Publisher
- Wiley
- Number of pages
- 29
- Grant note
- Chee Y. Ooi is funded by the National Health and Medical Research Council (NHMRC, Australia) (Investigator Grant 2020/GNT1194358). Anastasia Ward is funded by the Australian Government Research Training Program and Southern Cross University Faculty of Health. Open access publishing facilitated by Southern Cross University, as part of the Wiley - Southern Cross University agreement via the Council of Australian University Librarians.
- Identifiers
- 991013242960902368
- Copyright
- © 2024 Anastasia Ward et al This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- Academic Unit
- Human Sciences; Faculty of Science and Engineering; Faculty of Health
- Language
- English
- Resource Type
- Journal article