ArticleAmerican journal of respiratory and critical care medicine2016
Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.
Article in American journal of respiratory and critical care medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT00037765 (Gene Modifiers of Cystic Fibrosis Lung Disease), which is not on this map. Cited by 27 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Gene Modifiers of Cystic Fibrosis Lung Disease
Who cites it
27 citing papers in PubMed.
- Analytical and biological variation in repeated sweat chloride concentrations in clinical trials for CFTR modulator therapy.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2018Trial
- Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators.Molecular and cellular pediatrics · 2025Review
- Sweat conductivity test - can it be a cheaper alternative to sweat chloride analysis for diagnosis of cystic fibrosis in low resource setting?The Indian journal of medical research · 2025Article
- Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.Diagnostics (Basel, Switzerland) · 2024Review
- Understanding CFTR Functionality: A Comprehensive Review of Tests and Modulator Therapy in Cystic Fibrosis.Cell biochemistry and biophysics · 2024Review
- Elexacaftor-Tezacaftor-Ivacaftor in 2 cystic fibrosis adults homozygous for M1101K with end-stage lung disease.Respiratory medicine case reports · 2023Article
- Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.International journal of molecular sciences · 2022Review
- Advances in Preclinical In Vitro Models for the Translation of Precision Medicine for Cystic Fibrosis.Journal of personalized medicine · 2022Review
- Forskolin-induced organoid swelling is associated with long-term cystic fibrosis disease progression.The European respiratory journal · 2022Article
- Article
- Prediction of Real-World Long-Term Outcomes of People with CF Homozygous for the F508del Mutation Treated with CFTR Modulators.Journal of personalized medicine · 2021Article
- Measuring the impact of CFTR modulation on sweat chloride in cystic fibrosis: Rationale and design of the CHEC-SC study.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2021Observational
- Extracellular phosphate enhances the function of F508del-CFTR rescued by CFTR correctors.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2021Article
- Sweat Chloride Testing and Nasal Potential Difference (NPD) Are Primary Outcome Parameters in Treatment with Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Modulators.Journal of personalized medicine · 2021Article
- Soft, skin-interfaced sweat stickers for cystic fibrosis diagnosis and management.Science translational medicine · 2021Article
- Clinical and molecular characterization of the R751L-CFTR mutation.American journal of physiology. Lung cellular and molecular physiology · 2021Article
- Accelerated Approval or Risk Reduction? How Response Biomarkers Advance Therapeutics through Clinical Trials in Cystic Fibrosis.Trends in molecular medicine · 2020Review
- Integrated omics analysis of sweat reveals an aberrant amino acid metabolism pathway in Vogt-Koyanagi-Harada disease.Clinical and experimental immunology · 2020Article
- Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.American journal of respiratory and critical care medicine · 2019Article
- Sweat chloride quantification using capillary electrophoresis.Practical laboratory medicine · 2019Article
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Authors and funding
12 authors.
Funding
Abstract
rationaleExpanding the use of cystic fibrosis transmembrane conductance regulator (CFTR) potentiators and correctors for the treatment of cystic fibrosis (CF) requires precise and accurate biomarkers. Sweat chloride concentration provides an in vivo assessment of CFTR function, but it is unknown the degree to which CFTR mutations account for sweat chloride variation.
objectivesTo estimate potential sources of variation for sweat chloride measurements, including demographic factors, testing variability, recording biases, and CFTR genotype itself.
methodsA total of 2,639 sweat chloride measurements were obtained in 1,761 twins/siblings from the CF Twin-Sibling Study, French CF Modifier Gene Study, and Canadian Consortium for Genetic Studies. Variance component estimation was performed by nested mixed modeling. MEASUREMENTS AND MAIN
resultsAcross the tested CF population as a whole, CFTR gene mutations were found to be the primary determinant of sweat chloride variability (56.1% of variation) with contributions from variation over time (e.g., factors related to testing on different days; 13.8%), environmental factors (e.g., climate, family diet; 13.5%), other residual factors (e.g., test variability; 9.9%), and unique individual factors (e.g., modifier genes, unique exposures; 6.8%) (likelihood ratio test, P < 0.001). Twin analysis suggested that modifier genes did not play a significant role because the heritability estimate was negligible (H
conclusionsVariation in the CFTR gene is the predominant cause of sweat chloride variation; most of the non-CFTR variation is caused by testing variability and unique environmental factors. If test precision and accuracy can be improved, sweat chloride measurement could be a valuable biomarker for assessing response to therapies directed at mutant CFTR.
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Registered trials
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