ArticleProceedings of the National Academy of Sciences of the United States of America2020
Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 112 papers, 3 of them syntheses that pooled it.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
112 citing papers in PubMed, 3 syntheses or guidelines pooled it, 186 citations in OpenAlex.
- Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.Human molecular genetics · 2025Pooled it
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Pooled it
- Risk Carriers: Elevated Risk of Post-ERCP Pancreatitis in Patients Heterozygous for Mutations of the Cystic Firbrosis Transmembrane Regulator (CFTR) Gene.Digestive diseases and sciences · 2026Article
- Cystic Fibrosis Heterozygosity as a Risk Factor for Post-ERCP Pancreatitis: Implications for ERCP Risk Stratification in the Cosmos Cohort.Digestive diseases and sciences · 2026Article
- Is Tori seeing red? A lesson for first-year biology that unveils the complexity of phenotypic variation with pedigree analysis.Journal of microbiology & biology education · 2026Article
- Uncovering Cystic Fibrosis Carrier: Insights From a Heterozygous CFTR-F508del Rabbit Model.International forum of allergy & rhinology · 2026Article
- Antiviral defenses are diminished at birth in cystic fibrosis pig airways.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2026Article
- Article
- Bronchiectasis in Inborn Errors of Immunity: Prevalence, Predictors, and Cardiopulmonary Complications in a Genetically Characterized Cohort.Journal of clinical immunology · 2026Observational
- Altered functional interactions between CFTR disease mutants ΔF508 and G551D and the protein kinase A catalytic subunit.The Journal of physiology · 2026Article
- ERS Congress 2025: highlights from the Respiratory Infections Assembly.ERJ open research · 2026Article
- Large variations in total and allele-specific transcript expression in a disease mutation-independent manner.Scientific reports · 2026Article
- Rare genetic variant risks in patients with sepsis-associated acute respiratory distress syndrome.Respiratory research · 2026Article
- Rare heterozygous missense variants in VSX2 are associated with retinal detachment.PLoS genetics · 2026Article
- Beyond the Surface: Novel Therapy Approach for Pancreatitis in the Setting of CFTR Dysfunction.Case reports in gastrointestinal medicine · 2026Article
- Article
- Advancing Gene Therapy for Pancreatitis: From Genetic Insights to Clinical Translation.Research (Washington, D.C.) · 2026Review
- The validated French CFAbd-Score reveals a lower burden of gastrointestinal symptoms in patients on Elexacaftor/Tezacaftor/Ivacaftor.Journal of pediatric gastroenterology and nutrition · 2026Article
- Beyond Carrier Status: CFTR Heterozygosity as an Overlooked Clinical Risk Factor for Pancreatitis.Clinical genetics · 2025Article
52 more citing papers are in PubMed but not listed here.
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Autosomal recessive diseases, such as cystic fibrosis (CF), require inheritance of 2 mutated genes. However, some studies indicate that CF carriers are at increased risk for some conditions associated with CF. These investigations focused on single conditions and included small numbers of subjects. Our goal was to determine whether CF carriers are at increased risk for a range of CF-related conditions. Using the Truven Health MarketScan Commercial Claims database (2001-2017), we performed a population-based retrospective matched-cohort study. We identified 19,802 CF carriers and matched each carrier with 5 controls. The prevalence of 59 CF-related diagnostic conditions was evaluated in each cohort. Odds ratios for each condition were computed for CF carriers relative to controls. All 59 CF-related conditions were more prevalent among carriers compared with controls, with significantly increased risk (
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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.