A genome-wide association study reveals a polygenic architecture of speech-in-noise deficits in individuals with self-reported normal hearing

Ishan Sunilkumar Bhatt; Juan Antonio Raygoza Garay; Srividya Grama Bhagavan; Valerie Ingalls; Raquel Dias; Ali Torkamani

doi:10.1038/s41598-024-63972-2

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A genome-wide association study reveals a polygenic architecture of speech-in-noise deficits in individuals with self-reported normal hearing

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A genome-wide association study reveals a polygenic architecture of speech-in-noise deficits in individuals with self-reported normal hearing

Ishan Sunilkumar Bhatt, Juan Antonio Raygoza Garay, Srividya Grama Bhagavan, Valerie Ingalls, Raquel Dias and Ali Torkamani

Scientific reports, Vol.14(1), 13089

06/07/2024

DOI: 10.1038/s41598-024-63972-2

PMCID: PMC11161523

PMID: 38849415

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Abstract

Speech-in-noise (SIN) perception is a primary complaint of individuals with audiometric hearing loss. SIN performance varies drastically, even among individuals with normal hearing. The present genome-wide association study (GWAS) investigated the genetic basis of SIN deficits in individuals with self-reported normal hearing in quiet situations. GWAS was performed on 279,911 individuals from the UB Biobank cohort, with 58,847 reporting SIN deficits despite reporting normal hearing in quiet. GWAS identified 996 single nucleotide polymorphisms (SNPs), achieving significance (p < 5*10−8) across four genomic loci. 720 SNPs across 21 loci achieved suggestive significance (p < 10−6). GWAS signals were enriched in brain tissues, such as the anterior cingulate cortex, dorsolateral prefrontal cortex, entorhinal cortex, frontal cortex, hippocampus, and inferior temporal cortex. Cochlear cell types revealed no significant association with SIN deficits. SIN deficits were associated with various health traits, including neuropsychiatric, sensory, cognitive, metabolic, cardiovascular, and inflammatory conditions. A replication analysis was conducted on 242 healthy young adults. Self-reported speech perception, hearing thresholds (0.25–16 kHz), and distortion product otoacoustic emissions (1–16 kHz) were utilized for the replication analysis. 73 SNPs were replicated with a self-reported speech perception measure. 211 SNPs were replicated with at least one and 66 with at least two audiological measures. 12 SNPs near or within MAPT, GRM3, and HLA-DQA1 were replicated for all audiological measures. The present study highlighted a polygenic architecture underlying SIN deficits in individuals with self-reported normal hearing.

Inflammation

Auditory system

Cochlea

Cortex (cingulate)

Cortex (entorhinal)

Cortex (frontal)

DQA1 protein

Genome-wide association studies

Genomes

Hearing loss

Histocompatibility antigen HLA

Otoacoustic emissions

Perception

Polygenic inheritance

Prefrontal cortex

Replication

Self report

Single-nucleotide polymorphism

Somatosensory cortex

Speech perception

Temporal lobe

Young adults

Details

Title: Subtitle: A genome-wide association study reveals a polygenic architecture of speech-in-noise deficits in individuals with self-reported normal hearing
Creators: Ishan Sunilkumar Bhatt - University of Iowa
Juan Antonio Raygoza Garay - University of Iowa, Holden Comprehensive Cancer Center
Srividya Grama Bhagavan - University of Iowa
Valerie Ingalls - University of Iowa
Raquel Dias - University of Florida
Ali Torkamani - Scripps Research Institute
Resource Type: Journal article
Publication Details: Scientific reports, Vol.14(1), 13089
Publisher: Nature Publishing Group
DOI: 10.1038/s41598-024-63972-2
PMID: 38849415
PMCID: PMC11161523
ISSN: 2045-2322
eISSN: 2045-2322
Language: English
Date published: 06/07/2024
Academic Unit: Communication Sciences and Disorders; Otolaryngology; Holden Comprehensive Cancer Center; Internal Medicine
Record Identifier: 9984643647902771

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