ArticleNature genetics2011
Genome-wide association and linkage identify modifier loci of lung disease severity in cystic fibrosis at 11p13 and 20q13.2.
Article in Nature genetics, 2011. 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 148 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.
Gene Modifiers of Cystic Fibrosis Lung Disease
Who cites it
148 citing papers in PubMed, 3 syntheses or guidelines pooled it, 230 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
- Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association.Proceedings of the National Academy of Sciences of the United States of America · 2013Pooled it
- Genome-wide association analysis of blood biomarkers in chronic obstructive pulmonary disease.American journal of respiratory and critical care medicine · 2012Trial
- Impact of Genetics on Endocrine Manifestations of Cystic Fibrosis.Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026Review
- mTOR pathway diseases: challenges and opportunities from bench to bedside and the mTOR node.Orphanet journal of rare diseases · 2025Review
- Recent developments in cystic fibrosis drug discovery: where are we today?Expert opinion on drug discovery · 2025Review
- Reconsidering the Diagnosis: Abnormal Sweat Chloride Tests in Non-CF Bronchiectasis.Pediatric pulmonology · 2025Article
- A New Frontier in Cystic Fibrosis Pathophysiology: How and When Clock Genes Can Affect the Inflammatory/Immune Response in a Genetic Disease Model.Current issues in molecular biology · 2024Review
- Cell type-specific expression of angiotensin receptors in the human lung with implications for health, aging, and chronic disease.bioRxiv : the preprint server for biology · 2024Article
- Systems serology in cystic fibrosis: Anti-Pseudomonas IgG1 responses and reduced lung function.Cell reports. Medicine · 2023Article
- Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells.Cell & bioscience · 2023Article
- CDK8 and CDK19 act redundantly to control the CFTR pathway in the intestinal epithelium.EMBO reports · 2023Article
- Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels.Journal of medical virology · 2023Article
- Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.International journal of molecular sciences · 2022Review
- Club cell secretory protein and lung function in children with cystic fibrosis.Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society · 2022Article
- Disease-related blood-based differential methylation in cystic fibrosis and its representation in lung cancer revealed a regulatory locus inEpigenetics · 2022Article
- Accounting for population structure in genetic studies of cystic fibrosis.HGG advances · 2022Article
- Krüppel-Like Factor 5 Regulates CFTR Expression Through Repression by Maintaining Chromatin Architecture Coupled with Direct Enhancer Activation.Journal of molecular biology · 2022Article
- Linear Mixed-Effect Models Through the Lens of Hardy-Weinberg Disequilibrium.Frontiers in genetics · 2022Article
88 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
37 authors at 14 institutions in 2 countries.
Funding
Abstract
A combined genome-wide association and linkage study was used to identify loci causing variation in cystic fibrosis lung disease severity. We identified a significant association (P = 3.34 × 10(-8)) near EHF and APIP (chr11p13) in p.Phe508del homozygotes (n = 1,978). The association replicated in p.Phe508del homozygotes (P = 0.006) from a separate family based study (n = 557), with P = 1.49 × 10(-9) for the three-study joint meta-analysis. Linkage analysis of 486 sibling pairs from the family based study identified a significant quantitative trait locus on chromosome 20q13.2 (log(10) odds = 5.03). Our findings provide insight into the causes of variation in lung disease severity in cystic fibrosis and suggest new therapeutic targets for this life-limiting disorder.
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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.