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

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Related Experiment Video

Updated: May 8, 2026

In Vivo Morphometric Analysis of Human Cranial Nerves Using Magnetic Resonance Imaging in Menière's Disease Ears and Normal Hearing Ears

In Vivo Morphometric Analysis of Human Cranial Nerves Using Magnetic Resonance Imaging in Menière's Disease Ears and Normal Hearing Ears

Published on: February 21, 2018

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

Zhuozheng Shi^1,2, Ravi Mandla^1,2, Jingjing Li¹

¹Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.

Medrxiv : the Preprint Server for Health Sciences

|February 23, 2026

Summary

This summary is machine-generated.

Ménière

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Area of Science:

Genetics
Inner Ear Disorders
Neuroscience

Background:

Ménière's disease (MD) is a chronic inner ear condition with unknown causes.
Symptoms include vertigo, hearing loss, and tinnitus.
Understanding MD's genetic basis is crucial for diagnosis and treatment.

Purpose of the Study:

To identify genetic loci associated with Ménière's disease risk.
To explore the biological pathways contributing to MD pathogenesis.
To investigate the genetic overlap between MD and related neurological and sensory disorders.

Main Methods:

Genome-wide meta-analysis of over 8,900 MD cases and 1.9 million controls.
Fine-mapping and integrative functional analyses of significant genetic loci.
Phenome-wide and genetic correlation analyses with related traits.

Main Results:

Identified five independent genome-wide significant loci for MD.
Estimated SNP heritability at 7%, indicating a significant genetic contribution.
Implicated inner ear developmental regulation (EYA4, EYA1, LMO4) and retinoic acid metabolism (CYP26A1/C1, ALDH1A2) pathways.
Revealed shared genetic architecture with vertigo, hearing loss, migraine, and sleep apnea.

Conclusions:

Established a genetic framework for Ménière's disease risk.
Highlighted the role of developmental regulators and retinoic acid signaling in MD.
Positioned MD within a broader spectrum of sensory and neurological disorders with shared genetic underpinnings.