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Genome-wide Analysis Implicates Inner Ear Development In Ménière Disease.

Home
Genome-wide Analysis Implicates Inner Ear Development In Ménière Disease.

Related Experiment Video

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Published on: February 21, 2018

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

Zhuozheng Shi¹, Ravi Mandla¹, Jingjing Li²

¹Department 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.

American Journal of Human Genetics

|June 16, 2026

View abstract on PubMed

Summary

This summary is machine-generated.

Genetic analysis reveals key factors contributing to Ménière disease (MD) risk. Common genetic variations influence MD, implicating inner ear development and retinoic acid signaling pathways.

Keywords:

GWAS Ménière disease biobanks hearing inner ear

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Area of Science:

Genetics
Otolaryngology
Neuroscience

Background:

Ménière disease (MD) is a chronic inner ear condition with unknown causes, presenting with vertigo, hearing loss, and tinnitus.
Understanding the genetic basis of MD is crucial for identifying risk factors and potential therapeutic targets.

Purpose of the Study:

To identify genetic loci associated with Ménière disease risk through a large-scale genome-wide meta-analysis.
To explore the biological pathways involved in MD pathogenesis, including inner ear development and retinoic acid signaling.

Main Methods:

Genome-wide meta-analysis of 8,969 MD cases and 1,962,542 controls across five biobanks.
Fine-mapping and integrative functional analyses to identify candidate genes and pathways.
Phenome-wide and genetic correlation analyses to explore shared genetic architecture with related traits.

Main Results:

Identified five independent genome-wide significant loci for MD, with common genetic variation contributing 7% to MD risk.
Key genes implicated include EYA4, EYA1, CYP26A1, LMO4, and ALDH1A2, involved in inner ear development and retinoic acid metabolism.
MD shares genetic architecture with vertigo, tinnitus, hearing loss, migraine, and sleep apnea.

Conclusions:

Common genetic variations play a significant role in Ménière disease susceptibility.
Disrupted inner ear development and retinoic acid signaling are implicated in MD pathogenesis.
MD is situated within a broader spectrum of sensory and neurological disorders with shared genetic underpinnings.