ArticleJournal of medical genetics2011
Genes that determine immunology and inflammation modify the basic defect of impaired ion conductance in cystic fibrosis epithelia.
Article in Journal of medical genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
41 citing papers in PubMed, 77 citations in OpenAlex.
- Transcriptomic and functional responses of the cystic fibrosis airway epithelium to CFTR modulator therapy.JCI insight · 2025Article
- Progress of personalized medicine of cystic fibrosis in the times of efficient CFTR modulators.Molecular and cellular pediatrics · 2025Review
- A Robust Kernel-Based Workflow for Niche Trajectory Analysis.Small methods · 2025Article
- Evaluating precision medicine tools in cystic fibrosis for racial and ethnic fairness.Journal of clinical and translational science · 2024Article
- Review
- Analysis of CF patient survival confirms STAT3 as a CF-modifying gene with changing impact over time.Human molecular genetics · 2023Article
- The first report on CFTR mutations of meconium ileus in cystic fibrosis population in Saudi Arabia: A single center review.International journal of pediatrics & adolescent medicine · 2022Article
- IL1B gene variants, but not TNF, CXCL8, IL6 and IL10, modify the course of cystic fibrosis in Polish patients.F1000Research · 2022Article
- Article
- Effect of Alpha-1 Antitrypsin on CFTR Levels in Primary Human Airway Epithelial Cells Grown at the Air-Liquid-Interface.Molecules (Basel, Switzerland) · 2021Article
- Cystic Fibrosis Lung Disease Modifiers and Their Relevance in the New Era of Precision Medicine.Genes · 2021Review
- Comprehensive Analysis of Chemical Structures That Have Been Tested as CFTR Activating Substances in a Publicly Available Database CandActCFTR.Frontiers in pharmacology · 2021Article
- Genetic information from discordant sibling pairs points to ESRP2 as a candidate trans-acting regulator of the CF modifier gene SCNN1B.Scientific reports · 2020Article
- Sources of Variation in Sweat Chloride Measurements in Cystic Fibrosis.American journal of respiratory and critical care medicine · 2016Article
- Respiratory pathogens mediate the association between lung function and temperature in cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2016Article
- IL8 gene as modifier of cystic fibrosis: unraveling the factors which influence clinical variability.Human genetics · 2016Article
- Cystic fibrosis genetics: from molecular understanding to clinical application.Nature reviews. Genetics · 2015Review
- The Contribution of the Airway Epithelial Cell to Host Defense.Mediators of inflammation · 2015Review
- Self-reported exercise and longitudinal outcomes in cystic fibrosis: a retrospective cohort study.BMC pulmonary medicine · 2014Article
- Cat and dog exposure and respiratory morbidities in cystic fibrosis.The Journal of pediatrics · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe cystic fibrosis (CF) basic defect, caused by dysfunction of the apical chloride channel CFTR in the gastrointestinal and respiratory tract epithelia, has not been employed so far to support the role of CF modifier genes.
methodsPatients were selected from 101 families with a total of 171 F508del-CFTR homozygous CF patients to identify CF modifying genes. A candidate gene based association study of 52 genes on 16 different chromosomes with a total of 182 genetic markers was performed. Differences in haplotype and/or diplotype distribution between case and reference CF subpopulations were analysed.
resultsVariants at immunologically relevant genes were associated with the manifestation of the CF basic defect (0.01<Praw<0.0001 at IL1B, TLR9, TNFα, CD95, STAT3 and TNFR). The intragenic background of F508del-CFTR chromosomes determined disease severity and manifestation of the basic defect (Praw=0.0009). Allele distributions comparing transmitted and non-transmitted alleles were distorted at several loci unlinked to CFTR.
conclusionsThe inherited capabilities of the innate and adaptive immune system determine the manifestation of the CF basic defect. Variants on F508del-CFTR chromosomes contribute to the observed patient-to-patient variability among F508del-CFTR homozygotes. A survivor effect, manifesting as a transmission disequilibrium at many loci, is consistent with the improvement of clinical care over the last decades, resulting in a depletion of risk alleles at modifier genes. Awareness of non-genetic factors such as improvement of patient care over time is crucial for the interpretation of CF modifier studies.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.