399: Ménière disease: inner ear development and retinoic acid pathways

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Previously titled “399: Base by Base 399 — Ménière disease: inner ear development and retinoic acid pathways” — renamed by the publisher on Aug 6, 2026

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Shi Z et al., The American Journal of Human Genetics - A large GWAS meta-analysis across five biobanks (8,969 cases, 1,962,542 controls) identifies five genome-wide significant loci for Ménière disease, implicating developmental regulators EYA1/EYA4 and retinoic acid metabolism genes including CYP26A1. Integrative fine-mapping, eQTL, and single-cell expression place these signals in inner ear cell types and link MD to related sensory and neurological traits. Key terms: Ménière disease, EYA1, EYA4, retinoic acid, GWAS. Study Highlights:A GWAS meta-analysis of 8,969 Ménière disease cases and 1,962,542 controls across five biobanks identified five independent genome-wide significant loci, including two signals each at EYA4 and EYA1 and one near CYP26A1. Observed-scale SNP heritability was estimated at 7% (SE 0.8%), indicating a modest contribution of common variation. Fine-mapping, eQTL and single-cell expression data implicate dysregulation of inner ear developmental regulators and retinoic acid metabolism. Phenome-wide and genetic-correlation analyses reveal shared architecture with vertigo, tinnitus, hearing loss, migraine, and sleep apnea. Conclusion:Regulatory common variants in genes governing inner ear development (EYA1, EYA4) and retinoic acid signaling (CYP26A1/C1, ALDH1A2) contribute to Ménière disease risk, providing a genetic framework for functional follow-up and polygenic risk modeling. Music:Enjoy the music based on this article at the end of the episode. Article title:Genome-wide analysis implicates inner ear development in Ménière disease First author:Shi Z Journal:The American Journal of Human Genetics DOI:10.1016/j.ajhg.2026.05.011 Reference:Shi Z, Mandla R, Li J, et al. Genome-wide analysis implicates inner ear development in Ménière disease. The American Journal of Human Genetics. 2026;113:1–12. https://doi.org/10.1016/j.ajhg.2026.05.011 License:This episode is based on an open-access article published under the Creative Commons Attribution 4.0 International License (CC BY 4.0) – https://creativecommons.org/licenses/by/4.0/ Support:Base by Base – Stripe donations: https://donate.stripe.com/7sY4gz71B2sN3RWac5gEg00 Official website https://basebybase.com On PaperCast Base by Base you'll discover the latest in genomics, functional genomics, structural genomics, and proteomics. Episode link: https://basebybase.com/episodes/base-by-base-399-meniere-inner-ear QC:This episode was checked against the original article PDF and publication metadata for the episode release published on 2026-06-22. QC Scope:- article metadata and core scientific claims from the narration- excludes analogies, intro/outro, and music- transcript coverage: Substantive audit of the transcript's representation of GWAS scale, loci and genes (EYA4, EYA1, CYP26A1, ALDH1A2, LMO4), developmental/retinoic acid pathways, genetic correlations, limitations, and future directions as reported in the canonical article.- transcript topics: Genome-wide association study scale and meta-analysis across five biobanks; Identification of five independent signals: two at EYA4, two at EYA1, one near CYP26A1; EYA4 and EYA1 as developmental regulators of inner ear; Regulatory vs coding variants and gene expression implications; Retinoic acid signaling pathway involvement: CYP26A1/C1 and ALDH1A2; LMO4 as a suggestive signal and its developmental context QC Summary:- factual score: 10/10- metadata score: 10/10- supported core claims: 7- claims flagged for review: 0- metadata checks passed: 4- metadata issues found: 0 Metadata Audited:- article_doi- article_title- article_journal- license Factual Items Audited:- MD SNP-based heritability estimated at 7% (SE 0.8%) on the observ...

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