Evidence map›Paper›PMID 39867375›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Large-scale audiometric phenotyping identifies distinct genes and pathways involved in hearing loss subtypes.

Samah Ahmed, Kenneth I Vaden, Darren Leitao, Judy R Dubno, Britt I Drögemöller

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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.

2 · The registry

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.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

5 authors.

Samah AhmedDepartment of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.
Kenneth I VadenHearing Research Program, Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, South Carolina, Charleston, USA.
Darren LeitaoDepartment of Otolaryngology-Head and Neck Surgery, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
Judy R DubnoHearing Research Program, Department of Otolaryngology-Head and Neck Surgery, Medical University of South Carolina, South Carolina, Charleston, USA.
Britt I DrögemöllerDepartment of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, Manitoba, Canada.ORCID 0000-0002-3348-5855

Funding

SPEECH UNDERSTANDING IN REALISTIC ENVIRONMENTSP50DC000422 · NIDCD · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI DUBNO, JUDY R · 1989 to 2025
$45.3M
South Carolina Clinical & Translational Research Institute (SCTR)UL1TR001450 · NCATS · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI BRADY, KATHLEEN T., FLUME, PATRICK A · 2015 to 2024
$41.1M
RENOVATION TO SUPPORT SENSORY NEUROSCIENCE RESEARCHC06RR014516 · NCRR · MEDICAL UNIVERSITY OF SOUTH CAROLINA · PI RAYMOND, JOHN R · 1999 to 1999
–
NCATS NIH HHS UL1 TR001450NCRR NIH HHS C06 RR014516NIDCD NIH HHS P50 DC000422
6 · The paper itself

Abstract

Age-related hearing loss affects one-third of the population over 65 years. However, the diverse pathologies underlying these heterogenous phenotypes complicate genetic studies. To overcome challenges associated with accurate phenotyping for older adults with hearing loss, we applied computational phenotyping approaches based on audiometrically measured hearing loss. This novel phenotyping strategy uncovered distinct genetic variants associated with sensory and metabolic hearing loss. Sex-stratified analyses of these sexually dimorphic hearing loss phenotypes revealed a novel locus of relevance to sensory hearing loss in males, but not females. Enrichment analyses revealed that genes involved in frontotemporal dementia were implicated in metabolic hearing loss, while genes relating to sensory processing of sound by hair cells were implicated in sensory hearing loss. Our study has enhanced our understanding of these two distinct hearing loss phenotypes, representing the first step in the development of more precise treatments for these pathologically distinct hearing loss phenotypes.

Indexed as

audiogramsCanadian Longitudinal Study on Aging (CLSA)dementiagenome-wide association analyseshearing losssex-stratified analyses

Identifiers

PMID39867375
PMCPMC11759831

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
Read underepoch 390

Registered trials

None linked

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.