Evidence map›Paper›PMID 37102306›Full record

ArticleThe Laryngoscope2023

Mapping Genetic Susceptibility to Stenosis in the Proximal Airway.

Kayvon Sharif, William S Tierney, Ruth J Davis, Elizabeth Wohler, Nara Sobreira, Alexander T Hillel, Samuel Collins, Marisol Ramirez-Solano, Quanhu Sheng, Alexander Gelbard

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in The Laryngoscope, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
3.1field-weighted citation impact, top 8% of its field
1 · What the graph read from 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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed, 12 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Review
  5. A Comprehensive Flow Cytometry Panel for Analysis of Idiopathic Subglottic Stenosis.Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck Surgery · 2024
    Article
  6. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

10 authors at 3 institutions in 1 country.

Kayvon SharifVanderbilt University School of Medicine, Nashville, Tennessee, U.S.A.ORCID 0000-0001-5501-212X
William S TierneyDepartment of Otolaryngology-Head & Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, U.S.A.
Ruth J DavisDepartment of Otolaryngology-Head & Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, U.S.A.
Elizabeth WohlerMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.
Nara SobreiraMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.
Alexander T HillelDepartment of Otolaryngology-Head & Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.
Samuel CollinsDepartment of Otolaryngology-Head & Neck Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, U.S.A.
Marisol Ramirez-SolanoDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, Tennessee, U.S.A.
Quanhu ShengDepartment of Biostatistics, Vanderbilt University Medical Center, Nashville, Tennessee, U.S.A.
Alexander GelbardDepartment of Otolaryngology-Head & Neck Surgery, Vanderbilt University Medical Center, Nashville, Tennessee, U.S.A.ORCID 0000-0003-0078-1305
Vanderbilt University Medical Center · USJohns Hopkins University · USVanderbilt University · US

Funding

Molecular Interrogation of the Host-Pathogen Interface in Idiopathic Subglottic StensosisR01HL146401 · NHLBI · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GELBARD, ALEXANDER · 2019 to 2023
$1.9M
NHLBI NIH HHS R01 HL146401
6 · The paper itself

Abstract

objectivesRecent translational scientific efforts in subglottic stenosis (SGS) support a disease model where epithelial alterations facilitate microbiome displacement, dysregulated immune activation, and localized fibrosis. Yet despite recent advances, the genetic basis of SGS remains poorly understood. We sought to identify candidate risk genes associated with an SGS phenotype, investigate their biological function, and identify the cell types enriched for their expression.

methodsThe Online Mendelian Inheritance in Man (OMIM) database was queried for single gene variants associated with an SGS phenotype. The functional intersections and molecular roles of the identified genes were explored using pathway enrichment analysis (PEA) computational methods. Cellular localization of the candidate risk genes was measured via transcriptional quantification in an established single cell RNA sequencing (scRNA-seq) atlas of the proximal airway.

resultsTwenty genes associated with SGS phenotype were identified. PEA resulted in 24 significantly enriched terms including "cellular response to TGF-β," "epithelial-to-mesenchymal transition," and "adherens junctions." Mapping the 20 candidate risk genes to the scRNA-seq atlas found 3 (15%) genes were enriched in epithelial cells, 3 (15%) in fibroblasts, and 3 (15%) in endothelial cells. 11 (55%) genes were expressed ubiquitously among tissue types. Interestingly, immune cells were not significantly enriched for candidate risk genes.

conclusionWe identify and provide biologic context for 20 genes associated with fibrotic disease of the proximal airway and form the foundation for future detailed genetic study. LEVEL OF EVIDENCE: N/A Laryngoscope, 133:3049-3056, 2023.

Indexed as

Genetic Predisposition to DiseaseLaryngostenosisConstriction, PathologicEndothelial CellsFibrosisHumansepithelial-to-mesenchymal transitionIdiopathic subglottic stenosisiSGSlaryngotracheal stenosistracheal stenosis

Identifiers

PMID37102306
PMCPMC10593092
OpenAlexW4367175198

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.