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Discovering Age- and Sex-Specific Genetic Risk Factors in Sensorineural Hearing Loss: Genome-Wide Evidence from
Argyro Bizaki-Vallaskangas1,2, Eeva Sliz3, Tuuli Lankinen4
1Faculty of Medicine and Health Technology, Department of Otolaryngology, University of Tampere, Tampere, Finland. arbizaki@gmail.com.
Summary
This study identified new genetic risk loci for sensorineural hearing loss (SNHL) by analyzing large population datasets. These findings enhance our understanding of SNHL
Area of Science:
- Genetics
- Otolaryngology
- Population Genomics
Background:
- Sensorineural hearing loss (SNHL) is a significant global health concern with complex genetic etiologies.
- Understanding the genetic basis of SNHL is crucial for developing targeted diagnostics and therapeutics.
Purpose of the Study:
- To investigate the genetic architecture of sensorineural hearing loss (SNHL) through large-scale genome-wide meta-analyses.
- To identify novel genetic loci associated with SNHL in diverse population subgroups.
Main Methods:
- Genome-wide association studies (GWAS) were conducted on data from FinnGen and the Estonian Biobank.
- Meta-analyses combined GWAS results from over 531,000 individuals, including sex- and age-stratified analyses.
- Inverse variance-weighted meta-analysis approach was employed to aggregate findings.
Main Results:
- A total of 32 loci were associated with SNHL, with nine previously unreported.
- Novel SNHL loci were identified in general population, sex-stratified (female and male), and age-stratified (onset before and after 55 years) analyses.
- Significant differences in effect sizes of lead variants were observed across analytical subgroups for 14 variants.
Conclusions:
- The study identified previously unreported SNHL risk loci, contributing to the understanding of its genetic underpinnings.
- Findings support the role of mechano-transduction and inner ear structure genetics in SNHL.
- This research provides a foundation for future translational studies aimed at SNHL prevention and treatment.
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