International Session 13　　Otology-Basic Research

Objective : To examine whether the heterozygous GJB2 p.V37I variant increases susceptibility to sudden sensorineural hearing loss(SSNHL)and to explore its link to endoplasmic reticulum(ER)stress.Methods : A total of 145 SSNHL patients were screened for 25 variants in GJB2, SLC26A4, OTOF, and 12S rRNA using the SNaPshot Ⓡ Multiplex Assay.The frequency of GJB2 p.V37I was compared with the Taiwan Biobank.Clinical correlations were analyzed, and functional assays were performed in HEI-OC1 cells expressing wild-type or p.V37I GJB2 under tunicamycin-induced stress.Results : The p.V37I variant was detected in 26． 9％ of SSNHL patients and was significantly enriched compared with the general Taiwanese population(OR 1． 92 ; P＜0． 001) .The variant was associated with more severe hearing loss and recurrence.Functionally, p.V37I-expressing cells exhibited increased GRP78 and CHOP expression, indicating heightened ER stress.Conclusion : Heterozygous GJB2 p.V37I is associated with susceptibility and recurrence of SSNHL, potentially through ER stress-related mechanisms, supporting genetic screening and further mechanistic research.