ArticleEuropean journal of human genetics : EJHG2023
Rare-variant association analysis reveals known and new age-related hearing loss genes.
Article in European journal of human genetics : EJHG, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
18 citing papers in PubMed, 22 citations in OpenAlex.
- Article
- 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
- Advances in pathogenesis, novel therapeutic strategies and interventions for age-related hearing loss.Frontiers in molecular neuroscience · 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
- Dysferlin Protein-Protein Interaction Pathways in the Organ of Corti and Spiral Ganglion Intersect with Alzheimer's Protein Pathways.International journal of molecular sciences · 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
- Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusis.European journal of human genetics : EJHG · 2025Article
- Identification of druggable binding sites and small molecules as modulators of TMC1.Communications biology · 2025Article
- BAIAP2L2 facilitates hepatocellular carcinoma progression and immune evasion of via targeting JAK1-mediated pathway and PD-L1 expression.Cancer gene therapy · 2025Article
- Innovative treatment of age-related hearing loss using MSCs and EVs with Apelin.Cell biology and toxicology · 2025Article
- From genomic discovery to application in age-related hearing loss: a global bibliometric and cross-ethnic analysis.Frontiers in aging neuroscience · 2025Article
- Insights into Adaption and Growth Evolution: Genome-Wide Copy Number Variation Analysis in Chinese Hainan Yellow Cattle Using Whole-Genome Re-Sequencing Data.International journal of molecular sciences · 2024Article
- Polygenic Risk Score-Based Association Analysis Identifies Genetic Comorbidities Associated with Age-Related Hearing Difficulty in Two Independent Samples.Journal of the Association for Research in Otolaryngology : JARO · 2024Article
- The complex genomics of single gene disorders.European journal of human genetics : EJHG · 2023Article
- Assessing genetic diversity and defining signatures of positive selection on the genome of dromedary camels from the southeast of the Arabian Peninsula.Frontiers in veterinary science · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 2 institutions in 1 country.
Funding
Abstract
Age-related (AR) hearing loss (HL) is a prevalent sensory deficit in the elderly population. Several studies showed that common variants increase ARHL susceptibility. Here, we demonstrate that rare-variants play a crucial role in ARHL etiology. We analyzed exome and imputed data from white-European UK Biobank volunteers, performing both single-variant and rare-variant aggregate association analyses using self-reported ARHL phenotypes. We identified and replicated associations between ARHL and rare-variants in KLHDC7B, PDCD6, MYO6, SYNJ2, and TECTA. PUS7L and EYA4 also revealed rare-variant associations with ARHL. EYA4, MYO6, and TECTA are all known to underline Mendelian nonsyndromic HL. PDCD6, a new HL gene, plays an important role in apoptosis and has widespread inner ear expression, particularly in the inner hair cells. An unreplicated common variant association was previously observed for KHLDC7B, here we demonstrate that rare-variants in this gene also play a role in ARHL etiology. Additionally, the first replicated association between SYNJ2 and ARHL was detected. Analysis of common variants revealed several previously reported, i.e., ARHGEF28, and new, i.e., PIK3R3, ARHL associations, as well as ones we replicate here for the first time, i.e., BAIAP2L2, CRIP3, KLHDC7B, MAST2, and SLC22A7. It was also observed that the odds ratios for rare-variant ARHL associations, were higher than those for common variants. In conclusion, we demonstrate the vital role rare-variants, including those in Mendelian nonsyndromic HL genes, play in the etiology of ARHL.
Indexed as
Identifiers
What OpenQuestion holds
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.