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Discovering Age- and Sex-Specific Genetic Risk Factors in Sensorineural Hearing Loss: Genome-Wide Evidence from Large-Scale Biobanks

Bizaki-Vallaskangas A, Sliz E, Lankinen T, Saarentaus E, Salo V, Krebs K, Willberg T, Kivekäs I et al.

Journal of the Association for Research in Otolaryngology : JARO, 2026

531,059 participants

Abstract

Purpose: Investigate the genetic components of sensorineural hearing loss (SNHL) by performing genome-wide meta-analyses using the data from FinnGen and Estonian Biobank.

Methods: We studied genome-wide associations of SNHL in FinnGen and the Estonian Biobank in the general population and in sex- and age-of-onset stratified subgroups. The study-specific GWASs were combined through inverse variance-weighted genome-wide meta-analyses, encompassing a total of 531,059 individuals (Ncases = 35,960). Age-stratified meta-analyses included 28,198 individuals diagnosed at the age of 55 years or after and 7762 individuals diagnosed before the age of 55 years, with 495,099 controls. Sex-stratified meta-analyses included 313,501 females (Ncases = 17,761) and 217,558 males (Ncases = 18,199).

Results: In the meta-analysis focusing on the general population, 22 SNHL-associated loci (±1 Mb window) were observed, three of which were previously unreported. In the sex-stratified analysis, two previously unreported SNHL loci were observed in the female subgroup and one locus in the male subgroup. Additionally, in the age-stratified analysis, two previously unreported SNHL loci were observed in the subgroup of those that were diagnosed at the age of 55 years or after. In those diagnosed before the age of 55 years, one previously unreported locus was observed. Overall, 32 loci were associated with SNHL at p -8 in at least one of the study groups. Of these, nine have not been previously reported…

How strong is the evidence?

Evidence Hub reads this as a meta-analysis, done in people. Its evidence level is 1 of 5 (Highest · pooled evidence). Pooled evidence from several studies sits at the top of the evidence pyramid. Reported size: 531,059 participants or records.

How the five levels of evidence work. The level is assigned automatically from the abstract and can be wrong, so check the paper.

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