ArticleThe Journal of allergy and clinical immunology2021
Inducible expression quantitative trait locus analysis of the MUC5AC gene in asthma in urban populations of children.
Article in The Journal of allergy and clinical immunology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 24 citations in OpenAlex.
- Mepolizumab for urban children with exacerbation-prone eosinophilic asthma in the USA (MUPPITS-2): a randomised, double-blind, placebo-controlled, parallel-group trial.Lancet (London, England) · 2022Trial
- Cumulative genetic risk for asthma contributes to disease severity in children with asthma.The journal of allergy and clinical immunology. Global · 2026Article
- Identification and Validation of ALOX15 as a Robust Diagnostic Biomarker for Obesity-Associated Asthma: An Integrative Bioinformatic and Experimental Study.Journal of inflammation research · 2026Article
- Cumulative Genetic Risk for Asthma Contributes to Disease Severity in Children with Asthma living in Urban Environments.medRxiv : the preprint server for health sciences · 2025Article
- Early-life wheeze trajectories are associated with distinct asthma transcriptomes later in life.The Journal of allergy and clinical immunology · 2025Article
- MUC5AC filaments illuminate the structural diversification of respiratory and intestinal mucins.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Structural and genetic diversity in the secreted mucins MUC5AC and MUC5B.American journal of human genetics · 2024Article
- Structural and genetic diversity in the secreted mucins,bioRxiv : the preprint server for biology · 2024Article
- MUC5AC Genetic Variation Is Associated With Tuberculous Meningitis Cerebral Spinal Fluid Cytokine Responses and Mortality.The Journal of infectious diseases · 2023Article
- Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes.PLoS genetics · 2023Article
- Airway Wall Remodeling in Childhood Asthma-A Personalized Perspective from Cell Type-Specific Biology.Journal of personalized medicine · 2021Review
- Epithelial Aryl Hydrocarbon Receptor Protects From Mucus Production by Inhibiting ROS-Triggered NLRP3 Inflammasome in Asthma.Frontiers in immunology · 2021Article
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Authors and funding
26 authors at 17 institutions in 1 country.
Funding
Abstract
backgroundMucus plugging can worsen asthma control, lead to reduced lung function and fatal exacerbations. MUC5AC is the secretory mucin implicated in mucus plugging, and MUC5AC gene expression has been associated with development of airway obstruction and asthma exacerbations in urban children with asthma. However, the genetic determinants of MUC5AC expression are not established.
objectivesThis study sought to assess single-nucleotide polymorphisms (SNPs) that influence MUC5AC expression and relate to pulmonary functions in childhood asthma.
methodsThis study used RNA-sequencing data from upper airway samples and performed cis-expression quantitative trait loci (eQTL) and allele-specific expression analyses in 2 cohorts of predominantly Black and Hispanic urban children, a high asthma-risk birth cohort, and an exacerbation-prone asthma cohort. Inducible MUC5AC eQTLs were further investigated during incipient asthma exacerbations. Significant eQTLs SNPs were tested for associations with lung function measurements and their functional consequences were investigated in DNA regulatory databases.
resultsTwo independent groups of SNPs in the MUC5AC gene that were significantly associated with MUC5AC expression were identified. Moreover, these SNPs showed stronger eQTL associations with MUC5AC expression during asthma exacerbations, which is consistent with inducible expression. SNPs in 1 group also showed significant association with decreased pulmonary functions. These SNPs included multiple EGR1 transcription factor binding sites, suggesting a mechanism of effect.
conclusionsThese findings demonstrate the applicability of organ-specific RNA-sequencing data to determine genetic factors contributing to a key disease pathway. Specifically, they suggest important genetic variations that may underlie propensity to mucus plugging in asthma and could be important in targeted asthma phenotyping and disease management strategies.
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