ReviewThe Journal of allergy and clinical immunology2018
A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle.
Review in The Journal of allergy and clinical immunology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 108 papers, 3 of them syntheses that pooled it.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
108 citing papers in PubMed, 3 syntheses or guidelines pooled it, 173 citations in OpenAlex.
- Genetic characterization of preschool wheeze phenotypes.The Journal of allergy and clinical immunology · 2025Pooled it
- Genome-wide search for genes affecting the age at diagnosis of type 1 diabetes.Journal of internal medicine · 2021Pooled it
- Association study in African-admixed populations across the Americas recapitulates asthma risk loci in non-African populations.Nature communications · 2019Pooled it
- The Association of Prenatal C-Reactive Protein Levels With Childhood Asthma and Atopy.The journal of allergy and clinical immunology. In practice · 2022Trial
- Decreased sphingolipid synthesis in children with 17q21 asthma-risk genotypes.The Journal of clinical investigation · 2020Trial
- Associations Between Genetic Variants in the 17q21 Locus,Children (Basel, Switzerland) · 2026Article
- Mechanisms and therapeutic strategies of asthma: from bench to bedside.Signal transduction and targeted therapy · 2026Review
- Integrative Multivariate Genomics Identifies Shared Epithelial-Immune and Cytokine-Regulatory Mechanisms Across Major Chronic Lung Diseases.International journal of molecular sciences · 2026Article
- Reframing paucigranulocytic asthma through genetic endotyping: a hypothesis-generating focus on the 17q21 rs7216389 locus.Current opinion in allergy and clinical immunology · 2026Review
- S-PrediXcan predicted gene expression in human placenta is associated with childhood-onset asthma risk.Scientific reports · 2026Article
- Why Are Some Children More Sick Than Others? Lessons From Genome-wide Association Studies of Respiratory Viral Infections.The Pediatric infectious disease journal · 2026Article
- Nasopharyngeal Microbiome-Epigenome-Wide Association Analysis in Infants With Severe Bronchiolitis.Allergy · 2026Article
- Article
- Airway epithelial dysfunction in asthma pathogenesis: epigenetic mechanisms, inflammatory crosstalk, and therapeutic opportunities.Frontiers in allergy · 2026Review
- The gut-lung axis: pathological crosstalk and inter-organ communication in chronic obstructive pulmonary disease and inflammatory bowel disease.Frontiers in immunology · 2026Review
- Orm2 promotes nitrogen-induced sphingolipid production and endocytosis via Orm1 phosphorylation.Journal of lipid research · 2025Article
- Functional sequence variants of intergenic long noncoding RNA on chromosome 17q21 are associated with asthma.The European respiratory journal · 2025Article
- Genotypes in the 17q12-q21 asthma risk locus and early-life viral wheezing illnesses.Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology · 2025Article
- Association of 17q12-q21 Asthma Risk Locus with Clinical Severity of Infant Respiratory Syncytial Virus Infection.Biomolecules · 2025Article
- Trauma and Sensory Systems: Biological Mechanisms Involving the Skin and the 17q21 Gene Cluster.Biological psychiatry · 2025Review
48 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
12 authors at 2 institutions in 2 countries.
Funding
Abstract
Chromosome 17q12-21 remains the most highly replicated and significant asthma locus. Genotypes in the core region defined by the first genome-wide association study correlate with expression of 2 genes, ORM1-like 3 (ORMDL3) and gasdermin B (GSDMB), making these prime candidate asthma genes, although recent studies have implicated gasdermin A (GSDMA) distal to and post-GPI attachment to proteins 3 (PGAP3) proximal to the core region as independent loci. We review 10 years of studies on the 17q12-21 locus and suggest that genotype-specific risks for asthma at the proximal and distal loci are not specific to early-onset asthma and mediated by PGAP3, ORMDL3, and/or GSDMA expression. We propose that the weak and inconsistent associations of 17q single nucleotide polymorphisms with asthma in African Americans is due to the high frequency of some 17q alleles, the breakdown of linkage disequilibrium on African-derived chromosomes, and possibly different early-life asthma endotypes in these children. Finally, the inconsistent association between asthma and gene expression levels in blood or lung cells from older children and adults suggests that genotype effects may mediate asthma risk or protection during critical developmental windows and/or in response to relevant exposures in early life. Thus studies of young children and ethnically diverse populations are required to fully understand the relationship between genotype and asthma phenotype and the gene regulatory architecture at this locus.
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.