Evidence map›Paper›PMID 42302782›Full record

SynthesisAmerican journal of human genetics2026

Genome-wide analysis implicates inner ear development in Ménière disease.

Zhuozheng Shi, Ravi Mandla, Jingjing Li, Xinzhe Li, Zixuan Eleanor Zhang, Sixing Chen, Sandra Lapinska, Alexander O Flynn-Carroll, Bogdan Pasaniuc, Douglas J Epstein and 1 more

Abstract readMeta-Analysis
PubMed Full text at PMC Publisher
In one paragraph

Synthesis in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

11 authors.

Zhuozheng ShiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Graduate Group in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: zhuozheng.shi@pennmedicine.upenn.edu.
Ravi MandlaDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Graduate Group in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Jingjing LiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Xinzhe LiDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Graduate Group in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Zixuan Eleanor ZhangDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sixing ChenDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Sandra LapinskaDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Graduate Group in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Alexander O Flynn-CarrollDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Graduate Group in Genomics and Computational Biology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Bogdan PasaniucDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Biostatistics, Epidemiology and Informatics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA; Department of Computer and Information Science, School of Engineering and Applied Sciences, University of Pennsylvania, Philadelphia, PA, USA.
Douglas J EpsteinDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Iain MathiesonDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address: mathi@pennmedicine.upenn.edu.

Funding

Joint genomic and statistical analyses of schizophrenia and bipolar to decipher genetic susceptibilityR01MH115676 · NIMH · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Roel A Ophoff, Bogdan Pasaniuc · 2018 to 2026
$5.9M
Polygenic prediction and evolution of complex traitsR35GM133708 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Iain Neil Mathieson · 2019 to 2026
$2.9M
Identifying Undiagnosed Alzheimer’s Disease in Understudied PopulationsR01AG085518 · NIA · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Timothy S Chang · 2024 to 2026
$2.3M
Pathogenic mechanisms of adult hearing loss caused by Zfp719 mutationsR01DC021475 · NIDCD · UNIVERSITY OF PENNSYLVANIA · PI DOUGLAS J EPSTEIN · 2024 to 2026
$2.0M
NIA NIH HHS R01 AG085518NIDCD NIH HHS R01 DC021475NIGMS NIH HHS R35 GM133708NIMH NIH HHS R01 MH115676
6 · The paper itself

Abstract

Ménière disease (MD) is a chronic inner ear disorder characterized by recurrent vertigo, fluctuating sensorineural hearing loss, and tinnitus, but its etiology remains poorly understood. We performed a genome-wide meta-analysis of 8,969 MD case subjects and 1,962,542 control subjects across five biobanks, identifying five independent genome-wide significant loci and estimating an observed-scale SNP heritability of 7% (SE 0.8%), indicating a modest but significant contribution of common genetic variation to MD risk. The genome-wide significant signals comprise two independent variants at EYA4, two at EYA1, and one near CYP26A1, with odds ratios between 1.1 and 1.25. Associations at two additional loci, LMO4 and ALDH1A2, fell just below the genome-wide significance threshold (5 × 10

Indexed as

Ear, InnerGenome-Wide Association StudyMeniere DiseaseAldehyde Dehydrogenase 1 FamilyCase-Control StudiesFemaleGenetic Predisposition to DiseaseHumansIntracellular Signaling Peptides and ProteinsLIM Domain ProteinsMaleMiddle AgedPolymorphism, Single NucleotideRetinal DehydrogenaseRetinoic Acid 4-HydroxylaseTrans-ActivatorsAldehyde Dehydrogenase 1 FamilyALDH1A2 protein, humanEYA4 protein, humanIntracellular Signaling Peptides and ProteinsLIM Domain ProteinsRetinal DehydrogenaseRetinoic Acid 4-HydroxylaseTrans-ActivatorsbiobanksGWAShearinginner earMénière disease

Identifiers

PMID42302782
PMCPMC13393102

What OpenQuestion holds

Textmetadata
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.