ArticleNPJ genomic medicine2025
An ultra-rare missense variant in the KIF1B gene linked to autoinflammatory Menière's disease.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers, 1 of them a synthesis that pooled it.
What it found
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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.
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Who cites it
7 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A Systematic Review on the Role of the Stria Vascularis in Menière's Disease Pathogenesis.Journal of the Association for Research in Otolaryngology : JARO · 2025Pooled it
- Epidemiological and clinical differences in Meniere disease across European and East Asian populations.The Journal of international medical research · 2026Review
- Single-cell RNA-sequencing reveals cellular heterogeneity and identifies biomarkers for obstructive sleep apnea and migraine.Human genomics · 2026Article
- Causal cross-trait mapping at single-cell resolution identifies shared immunogenetic drivers of migraine and Meniere's disease.The journal of headache and pain · 2026Article
- Burden of novel and ultra-rare missense variants in the NF-κB pathway genes associated to Ménière's disease.Frontiers in immunology · 2026Article
- Whole Genome Sequencing of Discordant Monozygotic Twins Reveals Regulatory Variants Associated With Nonsyndromic Orofacial Clefts.Human mutation · 2026Article
- A single-cell multi-omics framework identifies immune cell drivers of migraine and repurposable therapeutics.The journal of headache and pain · 2025Article
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Menière's disease (MD) is an inner ear disorder characterised by episodes of vertigo, sensorineural hearing loss and tinnitus linked to autoinflammation and/or type 2 immune response. We hypothesise that rare variation in immune response genes could drive the autoinflammatory phenotype in MD. We retrieved differentially expressed genes (DEG) from single-cell RNAseq and epigenomic datasets to search for rare variants in the MD exome (N = 454) and genome (N = 511) sequencing datasets. The variant chr1:10374335 C > T in the KIF1B gene was found in three MD unrelated individuals and was predicted to be likely pathogenic. According to differential transcript usage, transcript ENST00000622724.3 was found in MD samples, but absent in controls. Furthermore, this variant may influence splicing through the generation of exonic enhancers and silencers, potentially changing transcription factor binding at the promoter. These findings support that this KIF1B gene rare variant is associated with the MD autoinflammatory phenotype and may up-regulate its expression in monocytes.
Identifiers
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Registered trials
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.