Cystic Fibrosis Clinical Trial
Official title:
DNA Methylation and Lung Disease in Cystic Fibrosis
Lung disease progression is variable among cystic fibrosis (CF) patients and depends on DNA mutations in the CFTR gene, polymorphic variations in disease-modifier genes and environmental exposure. The contribution of genetic factors has been extensively investigated, whereas the mechanism whereby environmental factors modulate the lung disease is unknown. Because these factors can affect the epigenome, investigators hypothesized that DNA methylation variations at disease-modifier genes modulate the lung function in CF patients.
Lung disease progression is variable among cystic fibrosis (CF) patients and depends on DNA
mutations in the CFTR gene, polymorphic variations in disease-modifier genes and
environmental exposure. The contribution of genetic factors has been extensively
investigated, whereas the mechanism whereby environmental factors modulate the lung disease
is unknown. Because these factors can affect the epigenome, investigators hypothesized that
DNA methylation variations at disease-modifier genes modulate the lung function in CF
patients.
The investigators analyzed DNA methylation levels in the promoter of fourteen lung
disease-modifier genes and showed that DNA methylation levels are altered in nasal
epithelial and blood cell samples from CF patients. This study disclosed slightly, but
significantly differentially methylated regions that collectively may modulate lung disease
severity. It also highlighted that complex relationships between genetic and epigenetic
factors contribute to the phenotypic variability of CF patients.
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Intervention Model: Single Group Assignment, Masking: Open Label, Primary Purpose: Basic Science
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