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Updated: Jun 21, 2026
07:04
Forskolin-induced Swelling in Intestinal Organoids: An In Vitro Assay for Assessing Drug Response in Cystic Fibrosis Patients
Published on: February 11, 2017
Update on gene modifiers in cystic fibrosis
Joseph M Collaco1, Garry R Cutting
1Eudowood Division of Pediatric Respiratory Sciences, The Johns Hopkins Medical Institutions, Baltimore, Maryland, USA.
Current Opinion in Pulmonary Medicine
|September 25, 2008
Summary
Genetic and environmental factors significantly influence cystic fibrosis (CF) lung disease severity. Understanding these modifiers is key to developing new therapies for this common monogenic disorder.
Area of Science:
- Genetics
- Pulmonology
- Immunology
Background:
- Cystic fibrosis (CF) is a severe monogenic disease impacting multiple organs, notably the lungs.
- The CFTR gene, identified in 1989, is the primary cause, but disease severity varies significantly.
- Identifying genetic and environmental modifiers is crucial for effective CF management and treatment development.
Purpose of the Study:
- To review current knowledge on genetic and environmental factors modifying cystic fibrosis disease severity.
- To highlight key replicated genetic modifiers and their impact on lung disease.
- To emphasize the importance of gene-gene and gene-environment interactions in CF.
Main Methods:
- Review of replicated genetic association studies in cystic fibrosis.
- Analysis of documented gene-environment interactions.
- Discussion of ongoing genome-wide association studies (GWAS) for novel modifier identification.
Main Results:
- Several genes have been validated as modifiers of CF disease severity, particularly those involved in inflammation and infection response.
- Documented interactions between CFTR genotype, modifier genes, and environmental factors influence lung function and infection rates.
- A significant portion of CF lung disease variability can be attributed to gene-gene and gene-environment interactions.
Conclusions:
- Genetic and environmental factors play a substantial role in modulating CF lung disease.
- Gene-gene and gene-environment interactions are critical for understanding disease heterogeneity.
- Further research, including GWAS, is expected to uncover novel modifiers and therapeutic targets for CF.
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