Evidence map›Paper›PMID 40989574›Full record

ArticleMedComm2025

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Alberto M Parra-Perez, Alvaro Gallego-Martinez, Alba Escalera-Balsera, Paula Robles-Bolivar, Patricia Perez-Carpena, Jose A Lopez-Escamez

Abstract read
In one paragraph

Article in MedComm, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
11citing 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

11 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. A rare variant inGenes & diseases · 2026
    Article
  4. Article
  5. Review
  6. Article
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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

6 authors.

Alberto M Parra-PerezOtology and Neurotology Group CTS495 Division of Otolaryngology Department of Surgery Instituto De Investigación Biosanitaria ibs.GRANADA Universidad De Granada Granada Spain.ORCID https://orcid.org/0000-0003-1208-8348
Alvaro Gallego-MartinezOtology and Neurotology Group CTS495 Division of Otolaryngology Department of Surgery Instituto De Investigación Biosanitaria ibs.GRANADA Universidad De Granada Granada Spain.ORCID https://orcid.org/0000-0002-6068-8965
Alba Escalera-BalseraOtology and Neurotology Group CTS495 Division of Otolaryngology Department of Surgery Instituto De Investigación Biosanitaria ibs.GRANADA Universidad De Granada Granada Spain.ORCID https://orcid.org/0000-0003-1027-8594
Paula Robles-BolivarOtology and Neurotology Group CTS495 Division of Otolaryngology Department of Surgery Instituto De Investigación Biosanitaria ibs.GRANADA Universidad De Granada Granada Spain.ORCID https://orcid.org/0000-0003-1481-290X
Patricia Perez-CarpenaOtology and Neurotology Group CTS495 Division of Otolaryngology Department of Surgery Instituto De Investigación Biosanitaria ibs.GRANADA Universidad De Granada Granada Spain.ORCID https://orcid.org/0000-0003-2722-4947
Jose A Lopez-EscamezOtology and Neurotology Group CTS495 Division of Otolaryngology Department of Surgery Instituto De Investigación Biosanitaria ibs.GRANADA Universidad De Granada Granada Spain.ORCID https://orcid.org/0000-0002-8583-1430

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Meniere disease (MD) is a chronic inner ear disorder with significant heritability. This study compares the burden of rare high- and moderate-impact coding variants in an MD cohort to determine whether genetic burden in sporadic MD (SMD) overlaps familial MD (FMD), potentially revealing hidden inheritance in SMD. Exome sequencing identified rare variants in unrelated FMD (

Indexed as

exome sequencinggenetic diagnosisgenomicsMeniere diseaserare variant analysis

Identifiers

PMID40989574
PMCPMC12450834

What OpenQuestion holds

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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.