scholarly journals Ancestral haplotype 8.1 and lung disease severity in European cystic fibrosis patients

2012 ◽  
Vol 11 (1) ◽  
pp. 63-67 ◽  
Author(s):  
Harriet Corvol ◽  
Julie Beucher ◽  
Pierre-Yves Boëlle ◽  
Pierre-François Busson ◽  
Céline Muselet-Charlier ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Disease Severity ◽  
Ancestral Haplotype ◽  
Lung Disease Severity

scholarly journals DNA Methylation at ATP11A cg11702988 Is a Biomarker of Lung Disease Severity in Cystic Fibrosis: A Longitudinal Study

Genes ◽  
2021 ◽  
Vol 12 (3) ◽  
pp. 441
Author(s):  
Fanny Pineau ◽  
Davide Caimmi ◽  
Sylvie Taviaux ◽  
Maurane Reveil ◽  
Laura Brosseau ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Dna Methylation ◽  
Clinical Trials ◽  
Lung Disease ◽  
Disease Severity ◽  
Genome Wide ◽  
A Genome ◽  
Lung Disease Severity ◽  
Epigenetic Biomarker

Cystic fibrosis (CF) is a chronic genetic disease that mainly affects the respiratory and gastrointestinal systems. No curative treatments are available, but the follow-up in specialized centers has greatly improved the patient life expectancy. Robust biomarkers are required to monitor the disease, guide treatments, stratify patients, and provide outcome measures in clinical trials. In the present study, we outline a strategy to select putative DNA methylation biomarkers of lung disease severity in cystic fibrosis patients. In the discovery step, we selected seven potential biomarkers using a genome-wide DNA methylation dataset that we generated in nasal epithelial samples from the MethylCF cohort. In the replication step, we assessed the same biomarkers using sputum cell samples from the MethylBiomark cohort. Of interest, DNA methylation at the cg11702988 site (ATP11A gene) positively correlated with lung function and BMI, and negatively correlated with lung disease severity, P. aeruginosa chronic infection, and the number of exacerbations. These results were replicated in prospective sputum samples collected at four time points within an 18-month period and longitudinally. To conclude, (i) we identified a DNA methylation biomarker that correlates with CF severity, (ii) we provided a method to easily assess this biomarker, and (iii) we carried out the first longitudinal analysis of DNA methylation in CF patients. This new epigenetic biomarker could be used to stratify CF patients in clinical trials.

scholarly journals SLC6A14 impacts cystic fibrosis lung disease severity via mTOR and epithelial repair modulation

2022 ◽  
Author(s):  
Julia Mercier ◽  
Claire Calmel ◽  
Julie Mésinèle ◽  
Erika Sutanto ◽  
Fatiha Merabtene ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Disease Severity ◽  
Promoter Activity ◽  
Mammalian Target Of Rapamycin ◽  
Luciferase Reporter ◽  
Lung Function Decline ◽  
Bronchial Epithelial ◽  
Epithelial Repair ◽  
Lung Disease Severity

Abstract Cystic fibrosis (CF), due to variants in CFTR gene, is associated with chronic infection/inflammation responsible for airway epithelium alteration and lung function decline. Modifier genes induce phenotype variability between people with CF (pwCF) carrying the same CFTR variants. Among these, the gene encoding for the amino acid transporter SLC6A14 has been associated with lung disease severity and age of primary airway infection by the bacteria Pseudomonas aeruginosa. In this study, we investigated whether the single nucleotide polymorphism (SNP) rs3788766, located within SLC6A14 promoter, is associated with lung disease severity in a large French cohort of pwCF. We also studied the consequences of this SNP on SLC6A14 promoter activity using a luciferase reporter and the role of SLC6A14 in mammalian target of rapamycin (mTOR) signaling pathway and airway epithelial repair. We confirm that SLC6A14 rs3788766 SNP is associated with lung disease severity in pwCF (p=0.020; n=3,257, pancreatic insufficient, aged 6 to 40 years old), with the minor allele G being deleterious. In bronchial epithelial cell lines deficient for CFTR, SLC6A14 promoter activity is reduced in the presence of the rs3788766 G allele. SLC6A14 inhibition with a specific pharmacological blocker reduced 3H-arginine transport, mTOR phosphorylation and bronchial epithelial repair rates in wound healing assays. To conclude, our study highlights that SLC6A14 genotype might affect lung disease severity of people with cystic fibrosis via mTOR and epithelial repair mechanisms modulation in the lung.

Fat-free mass depletion in cystic fibrosis: Associated with lung disease severity but poorly detected by body mass index

Nutrition ◽  
2010 ◽  
Vol 26 (7-8) ◽  
pp. 753-759 ◽  
Author(s):  
Susannah J. King ◽  
Ibolya B. Nyulasi ◽  
Boyd J.G. Strauss ◽  
Tom Kotsimbos ◽  
Michael Bailey ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Cystic Fibrosis ◽  
Lung Disease ◽  
Disease Severity ◽  
Body Mass ◽  
Fat Free Mass ◽  
Mass Depletion ◽  
Lung Disease Severity

scholarly journals Histo-Blood Group Gene Polymorphisms as Potential Genetic Modifiers of Infection and Cystic Fibrosis Lung Disease Severity

PLoS ONE ◽  
2009 ◽  
Vol 4 (1) ◽  
pp. e4270 ◽  
Author(s):  
Jennifer L. Taylor-Cousar ◽  
Maimoona A. Zariwala ◽  
Lauranell H. Burch ◽  
Rhonda G. Pace ◽  
Mitchell L. Drumm ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Disease Severity ◽  
Blood Group ◽  
Gene Polymorphisms ◽  
Cystic Fibrosis Lung ◽  
Genetic Modifiers ◽  
Cystic Fibrosis Lung Disease ◽  
Lung Disease Severity

scholarly journals Erratum: Corrigendum: Novel variation at chr11p13 associated with cystic fibrosis lung disease severity

2017 ◽  
Vol 4 (1) ◽  
Author(s):  
Hong Dang ◽  
Paul J Gallins ◽  
Rhonda G Pace ◽  
Xue-liang Guo ◽  
Jaclyn R Stonebraker ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Lung Disease ◽  
Disease Severity ◽  
Cystic Fibrosis Lung ◽  
Cystic Fibrosis Lung Disease ◽  
Lung Disease Severity ◽  
Novel Variation
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