ArticleCold Spring Harbor perspectives in medicine2012
The influence of genetics on cystic fibrosis phenotypes.
Article in Cold Spring Harbor perspectives in medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 46 papers, 2 of them syntheses that pooled it.
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.
Gene Modifiers of Cystic Fibrosis Lung Disease
Genetic Modifiers of CF Liver Disease
Who cites it
46 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Impact of Gene Modifiers on Cystic Fibrosis Phenotypic Profiles: A Systematic Review.Human mutation · 2024Pooled it
- Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis.Nature communications · 2015Pooled it
- Role of S1PR1 in Modulating Airway Epithelial Responses toPathogens (Basel, Switzerland) · 2025Article
- Efficacy of elexacaftor/tezacaftor/ivacaftor in non-cystic fibrosis bronchiectasis patients with a single pathogenicERJ open research · 2025Article
- SPINK1-related chronic pancreatitis: A model that encapsulates the spectrum of variant effects, genetic complexity, and classificatory challenges.American journal of human genetics · 2025Article
- Evaluating the Diagnostic Potential of the FIB-4 Index for Cystic Fibrosis-Associated Liver Disease in Adults: A Comparison with Transient Elastography.Journal of clinical medicine · 2025Article
- Complicated meconium ileus in a male neonate with cystic fibrosis: Case report.Radiology case reports · 2025Article
- Diagnosis of cystic fibrosis: a high heterogeneity of symptoms and genotypes in a Brazil population.BMC pediatrics · 2024Article
- Diagnosing Cystic Fibrosis in the 21st Century-A Complex and Challenging Task.Diagnostics (Basel, Switzerland) · 2024Review
- Identification of osteoporosis genes using family studies.Frontiers in endocrinology · 2024Review
- 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
- Genetic Modifying Factors of Cystic Fibrosis Phenotype: A Challenge for Modern Medicine.Journal of clinical medicine · 2021Review
- Association Between Cystic Fibrosis Severity Markers and CFTR Genotypes in Turkish Children.Turkish thoracic journal · 2021Article
- Shifting Gears in Precision Oncology-Challenges and Opportunities of Integrative Data Analysis.Biomolecules · 2021Review
- Elucidating clinical phenotypic variability associated with the polyT tract and TG repeats in CFTR.Human mutation · 2021Article
- Validation of nasospheroids to assay CFTR functionality and modulator responses in cystic fibrosis.Scientific reports · 2021Article
- Methionine sulfoxide and the methionine sulfoxide reductase system as modulators of signal transduction pathways: a review.Amino acids · 2021Review
- Tensin 1 (TNS1) is a modifier gene for low body mass index (BMI) in homozygous [F508del]CFTR patients.Physiological reports · 2021Article
- Membrane Lipids and CFTR: The Yin/Yang of Efficient Ceramide Metabolism.American journal of respiratory and critical care medicine · 2020Article
- Strong toll-like receptor responses in cystic fibrosis patients are associated with higher lung function.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Technological advances in genetics have made feasible and affordable large studies to identify genetic variants that cause or modify a trait. Genetic studies have been carried out to assess variants in candidate genes, as well as polymorphisms throughout the genome, for their associations with heritable clinical outcomes of cystic fibrosis (CF), such as lung disease, meconium ileus, and CF-related diabetes. The candidate gene approach has identified some predicted relationships, while genome-wide surveys have identified several genes that would not have been obvious disease-modifying candidates, such as a methionine sulfoxide transferase gene that influences intestinal obstruction, or a region on chromosome 11 proximate to genes encoding a transcription factor and an apoptosis controller that associates with lung function. These unforeseen associations thus provide novel insight into disease pathophysiology, as well as suggesting new therapeutic strategies for CF.
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.