ReviewAnnals of the New York Academy of Sciences2010
Modifier genes in Mendelian disorders: the example of cystic fibrosis.
Review in Annals of the New York Academy of Sciences, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02976714 (Identification of Predictive Epigenetic Biomarkers of Lung Disease Severity in Cystic Fibrosis), which is not on this map. Cited by 135 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.
Identification of Predictive Epigenetic Biomarkers of Lung Disease Severity in Cystic Fibrosis
Who cites it
135 citing papers in PubMed, 275 citations in OpenAlex.
- Role of S1PR1 in Modulating Airway Epithelial Responses toPathogens (Basel, Switzerland) · 2025Article
- Clinical and genetic characteristics of diseases caused by CFTR gene mutations in 15 Chinese children: a retrospective analysis.BMC pediatrics · 2025Article
- Gene and Stem Cell-Based Therapies for Retinal Degenerative Diseases: Update, Challenges, and Future Directions.Stem cell reviews and reports · 2025Review
- Intact spermatogenesis in an azoospermic patient with AZFa (sY84 and sY86) microdeletion and a homozygous TG12-5T variant in CFTR.Basic and clinical andrology · 2025Article
- Review
- Preclinical biodistribution and toxicology assessment of an AAV5-based subretinal modifier gene therapy for retinitis pigmentosa.Frontiers in medicine · 2025Article
- Cystic fibrosis.Nature reviews. Disease primers · 2024Review
- Inflammation in the COVID-19 airway is due to inhibition of CFTR signaling by the SARS-CoV-2 spike protein.Scientific reports · 2024Article
- Article
- Human CFTR deficient iPSC-macrophages reveal impaired functional and transcriptomic response uponFrontiers in immunology · 2024Article
- CRISPR/Cas9 bioluminescence-based assay for monitoring CFTR trafficking to the plasma membrane.Life science alliance · 2024Article
- Factorizing polygenic epistasis improves prediction and uncovers biological pathways in complex traits.American journal of human genetics · 2023Article
- Impact of intrinsic and extrinsic risk factors on early-onset lung disease in cystic fibrosis.Pediatric pulmonology · 2023Article
- Model Organism Modifier (MOM): a user-friendly Galaxy workflow to detect modifiers from genome sequencing data using Caenorhabditis elegans.G3 (Bethesda, Md.) · 2023Article
- Gene Therapy for Retinal Degenerative Diseases: Progress, Challenges, and Future Directions.Investigative ophthalmology & visual science · 2023Review
- Case Report: A Disease Phenotype of Rett Syndrome and Neurofibromatosis Resulting from A Bilocus Variant Combination.Journal of autism and developmental disorders · 2023Article
- Mutation-class dependent signatures outweigh disease-associated processes in cystic fibrosis cells.Cell & bioscience · 2023Article
- Modifier Factors of Cystic Fibrosis Phenotypes: A Focus on Modifier Genes.International journal of molecular sciences · 2022Review
- Loss-of-function mutation survey revealed that genes with background-dependent fitness are rare and functionally related in yeast.Proceedings of the National Academy of Sciences of the United States of America · 2022Article
- Analysis of the genotypic profile and its relationship with the clinical manifestations in people with cystic fibrosis: study from a rare disease registry.Orphanet journal of rare diseases · 2022Article
75 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
Abstract
In the past three decades, scientists have had immense success in identifying genes and their variants that contribute to an array of diseases. While the identification of such genetic variants has informed our knowledge of the etiologic bases of diseases, there continues to be a substantial gap in our understanding of the factors that modify disease severity. Monogenic diseases provide an opportunity to identify modifiers as they have uniform etiology, detailed phenotyping of affected individuals, and familial clustering. Cystic fibrosis (CF) is among the more common life-shortening recessive disorders that displays wide variability in clinical features and survival. Considerable progress has been made in elucidating the contribution of genetic and nongenetic factors to CF. Allelic variation in CFTR, the gene responsible for CF, correlates with some aspects of the disease. However, lung function, neonatal intestinal obstruction, diabetes, and anthropometry display strong genetic control independent of CFTR, and candidate gene studies have revealed genetic modifiers underlying these traits. The application of genome-wide techniques holds great promise for the identification of novel genetic variants responsible for the heritable features and complications of CF. Since the genetic modifiers are known to alter the course of disease, their protein products become immediate targets for therapeutic intervention.
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.