SynthesisPLoS genetics2020
Biological insights from multi-omic analysis of 31 genomic risk loci for adult hearing difficulty.
Synthesis in PLoS genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 4 of them syntheses that pooled it.
What it found
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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.
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
53 citing papers in PubMed, 4 syntheses or guidelines pooled it, 80 citations in OpenAlex.
- Discovering Age- and Sex-Specific Genetic Risk Factors in Sensorineural Hearing Loss: Genome-Wide Evidence from Large-Scale Biobanks.Journal of the Association for Research in Otolaryngology : JARO · 2026Pooled it
- Genetic architecture distinguishes tinnitus from hearing loss.Nature communications · 2024Pooled it
- Population-scale analysis of common and rare genetic variation associated with hearing loss in adults.Communications biology · 2022Pooled it
- Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss.American journal of human genetics · 2022Pooled it
- Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults.American journal of human genetics · 2026Article
- A comparative single-cell transcriptomic atlas for diverse populations of vertebrate hair cells.bioRxiv : the preprint server for biology · 2026Article
- Causal associations of white blood cell subtypes with age-related hearing loss: A Mendelian randomization study.Medicine · 2026Article
- Multi-scale analysis reveals key targets mediating BPA-induced sensorineural hearing loss.Medicine · 2026Article
- Polygenic Contribution to Sensorineural Hearing Loss Implicates Novel Risk Loci and Convergence with Congenital Hearing Loss Genes.Journal of the Association for Research in Otolaryngology : JARO · 2026Article
- Presbycusis Across the Lifespan: Genetic, Molecular, and Multi-Omics Contributions.Audiology research · 2026Review
- Multi-ancestry GWAS of age-related hearing loss identifies 140 loci and key cellular mechanisms.Nature communications · 2026Article
- Distinct cochlear cell types associated with genetic susceptibility to sensory and metabolic hearing loss in older adults from the CLSA.bioRxiv : the preprint server for biology · 2026Article
- Genetic and Environmental Factors Shaping Hearing Loss: Xenobiotics, Mechanisms and Translational Perspectives.Journal of xenobiotics · 2026Review
- Genetic and functional evidence implicates amedRxiv : the preprint server for health sciences · 2025Article
- Cross-species validation of a human age-related hearing loss candidate KLHDC7B as essential for mammalian hearing.Communications biology · 2025Article
- The importance of accurate phenotyping in large-scale analyses of common disorders such as hearing loss.European journal of human genetics : EJHG · 2025Article
- Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes.Communications biology · 2025Article
- Genome-Wide Association Study of Age-Related Hearing Loss in CFW Mice Identifies Multiple Genes and Loci, Including Prkag2.Journal of the Association for Research in Otolaryngology : JARO · 2025Article
- TNFAIP8L2 maintains hair cell function and regulates age-related hearing loss via mTORC1 signaling.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Characteristics of the Kelch domain containing (KLHDC) subfamily and relationships with diseases.FEBS letters · 2025Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
Age-related hearing impairment (ARHI), one of the most common medical conditions, is strongly heritable, yet its genetic causes remain largely unknown. We conducted a meta-analysis of GWAS summary statistics from multiple hearing-related traits in the UK Biobank (n = up to 330,759) and identified 31 genome-wide significant risk loci for self-reported hearing difficulty (p < 5x10-8), of which eight have not been reported previously in the peer-reviewed literature. We investigated the regulatory and cell specific expression for these loci by generating mRNA-seq, ATAC-seq, and single-cell RNA-seq from cells in the mouse cochlea. Risk-associated genes were most strongly enriched for expression in cochlear epithelial cells, as well as for genes related to sensory perception and known Mendelian deafness genes, supporting their relevance to auditory function. Regions of the human genome homologous to open chromatin in epithelial cells from the mouse were strongly enriched for heritable risk for hearing difficulty, even after adjusting for baseline effects of evolutionary conservation and cell-type non-specific regulatory regions. Epigenomic and statistical fine-mapping most strongly supported 50 putative risk genes. Of these, 39 were expressed robustly in mouse cochlea and 16 were enriched specifically in sensory hair cells. These results reveal new risk loci and risk genes for hearing difficulty and suggest an important role for altered gene regulation in the cochlear sensory epithelium.
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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.