Trial reportThe Journal of allergy and clinical immunology2014
A genome-wide survey of CD4(+) lymphocyte regulatory genetic variants identifies novel asthma genes.
Trial report in The Journal of allergy and clinical immunology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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
32 citing papers in PubMed, 50 citations in OpenAlex.
- Differences in microRNA levels across metabo-endotypes reveal novel insights into asthma heterogeneity.Respiratory research · 2026Article
- Sparse group variable selection for gene-environment interactions in the longitudinal study.Genetic epidemiology · 2022Article
- "Stick a Fork in Me; I'm Done": Epithelial Cell Expression of ORMDL Sphingolipid Biosynthesis Regulator 3 Mediates Autophagic Cell Death.American journal of respiratory cell and molecular biology · 2022Article
- Asthma Susceptibility GeneAmerican journal of respiratory cell and molecular biology · 2022Article
- Nasal airway transcriptome-wide association study of asthma reveals genetically driven mucus pathobiology.Nature communications · 2022Article
- Diversity and the Splice of Life: Mapping the 17q12-21.1 Locus for Variants Associated with Early-Onset Asthma in African American Individuals.American journal of respiratory and critical care medicine · 2021Article
- Article
- Functional Genomics of the Pediatric Obese Asthma Phenotype Reveal Enrichment of Rho-GTPase Pathways.American journal of respiratory and critical care medicine · 2020Article
- Article
- Targeted exon sequencing in deceased schizophrenia patients in Denmark.International journal of legal medicine · 2020Article
- The Role of T Cells and Macrophages in Asthma Pathogenesis: A New Perspective on Mutual Crosstalk.Mediators of inflammation · 2020Article
- The role of the 17q21 genotype in the prevention of early childhood asthma and recurrent wheeze by vitamin D.The European respiratory journal · 2019Article
- The ORMDL3 Asthma Gene Regulates ICAM1 and Has Multiple Effects on Cellular Inflammation.American journal of respiratory and critical care medicine · 2019Article
- A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.The Journal of allergy and clinical immunology · 2018Review
- Histone modifications and their role in epigenetics of atopy and allergic diseases.Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical Immunology · 2018Review
- IL-33 dysregulates regulatory T cells and impairs established immunologic tolerance in the lungs.The Journal of allergy and clinical immunology · 2017Article
- Genetic variants and risk of asthma in an American Indian population.Annals of allergy, asthma & immunology : official publication of the American College of Allergy, Asthma, & Immunology · 2017Article
- Gene Expression Profiling in Blood Provides Reproducible Molecular Insights into Asthma Control.American journal of respiratory and critical care medicine · 2017Article
- Beneficial Effects of PrebioticJournal of immunology research · 2017Article
- Epigenetic Combinatorial Patterns Predict Disease Variants.Frontiers in genetics · 2017Article
Corrections and comments
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Authors and funding
33 authors at 16 institutions in 3 countries.
Funding
Abstract
backgroundGenome-wide association studies have yet to identify the majority of genetic variants involved in asthma. We hypothesized that expression quantitative trait locus (eQTL) mapping can identify novel asthma genes by enabling prioritization of putative functional variants for association testing.
objectiveWe evaluated 6706 cis-acting expression-associated variants (eSNPs) identified through a genome-wide eQTL survey of CD4(+) lymphocytes for association with asthma.
methodseSNPs were tested for association with asthma in 359 asthmatic patients and 846 control subjects from the Childhood Asthma Management Program, with verification by using family-based testing. Significant associations were tested for replication in 579 parent-child trios with asthma from Costa Rica. Further functional validation was performed by using formaldehyde-assisted isolation of regulatory elements (FAIRE) quantitative PCR and chromatin immunoprecipitation PCR in lung-derived epithelial cell lines (Beas-2B and A549) and Jurkat cells, a leukemia cell line derived from T lymphocytes.
resultsCis-acting eSNPs demonstrated associations with asthma in both cohorts. We confirmed the previously reported association of ORMDL3/GSDMB variants with asthma (combined P = 2.9 × 10(-8)). Reproducible associations were also observed for eSNPs in 3 additional genes: fatty acid desaturase 2 (FADS2; P = .002), N-acetyl-α-D-galactosaminidase (NAGA; P = .0002), and Factor XIII, A1 (F13A1; P = .0001). Subsequently, we demonstrated that FADS2 mRNA is increased in CD4(+) lymphocytes in asthmatic patients and that the associated eSNPs reside within DNA segments with histone modifications that denote open chromatin status and confer enhancer activity.
conclusionsOur results demonstrate the utility of eQTL mapping in the identification of novel asthma genes and provide evidence for the importance of FADS2, NAGA, and F13A1 in the pathogenesis of asthma.
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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.