Evidence map›Paper›PMID 38943082›Full record

ArticleBMC genomics2024

The genomic landscape of Ménière's disease: a path to endolymphatic hydrops.

Kathleen M Fisch, Sara Brin Rosenthal, Adam Mark, Roman Sasik, Chanond A Nasamran, Royce Clifford, M Jennifer Derebery, Ely Boussaty, Kristen Jepsen, Jeffrey Harris and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
–field-weighted citation impact
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

14 citing papers in PubMed, 2 syntheses or guidelines pooled it.

  1. Pooled it
  2. A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025
    Pooled it
  3. Article
  4. Article
  5. Review
  6. Article
  7. Genome-wide analysis implicates inner ear development in Ménière's disease.medRxiv : the preprint server for health sciences · 2026
    Article
  8. Article
  9. Article
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Kathleen M Fisch *Center for Computational Biology & Bioinformatics, University of California, San Diego, La Jolla, CA, USA. kfisch@health.ucsd.edu.
Sara Brin Rosenthal *Center for Computational Biology & Bioinformatics, University of California, San Diego, La Jolla, CA, USA.
Adam MarkCenter for Computational Biology & Bioinformatics, University of California, San Diego, La Jolla, CA, USA.
Roman SasikCenter for Computational Biology & Bioinformatics, University of California, San Diego, La Jolla, CA, USA.
Chanond A NasamranCenter for Computational Biology & Bioinformatics, University of California, San Diego, La Jolla, CA, USA.
Royce CliffordDepartment of Otolaryngology, Head & Neck Surgery, University of California, San Diego, La Jolla, CA, USA.
M Jennifer DereberyHouse Institute Foundation, Los Angeles, CA, USA.
Ely BoussatyDepartment of Otolaryngology, Head & Neck Surgery, University of California, San Diego, La Jolla, CA, USA.
Kristen JepsenInstitute for Genomic Medicine, University of California, San Diego, La Jolla, CA, USA.
Jeffrey HarrisDepartment of Otolaryngology, Head & Neck Surgery, University of California, San Diego, La Jolla, CA, USA.
Rick A FriedmanDepartment of Otolaryngology, Head & Neck Surgery, University of California, San Diego, La Jolla, CA, USA. rafriedman@health.ucsd.edu.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMénière's disease (MD) is a disorder of the inner ear that causes episodic bouts of severe dizziness, roaring tinnitus, and fluctuating hearing loss. To date, no targeted therapy exists. As such, we have undertaken a large whole genome sequencing study on carefully phenotyped unilateral MD patients with the goal of gene/pathway discovery and a move towards targeted intervention. This study was a retrospective review of patients with a history of Ménière's disease. Genomic DNA, acquired from saliva samples, was purified and subjected to whole genome sequencing.

resultsStringent variant calling, performed on 511 samples passing quality checks, followed by gene-based filtering by recurrence and proximity in molecular interaction networks, led to 481 high priority MD genes. These high priority genes, including MPHOSPH8, MYO18A, TRIOBP, OTOGL, TNC, and MYO6, were previously implicated in hearing loss, balance, and cochlear function, and were significantly enriched in common variant studies of hearing loss. Validation in an independent MD cohort confirmed 82 recurrent genes. Pathway analysis pointed to cell-cell adhesion, extracellular matrix, and cellular energy maintenance as key mediators of MD. Furthermore, the MD-prioritized genes were highly expressed in human inner ear hair cells and dark/vestibular cells, and were differentially expressed in a mouse model of hearing loss.

conclusionBy enabling the development of model systems that may lead to targeted therapies and MD screening panels, the genes and variants identified in this study will inform diagnosis and treatment of MD.

Indexed as

Endolymphatic HydropsGenomicsMeniere DiseaseAdultAnimalsFemaleHumansMaleMiceMiddle AgedRetrospective StudiesWhole Genome SequencingGene discoveryMénière's diseaseNetwork analysisSystems biologyWhole genome sequencing

Identifiers

PMID38943082
PMCPMC11212243

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.