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Video

Otology/Neurotology

(A824) GJB2 p.V37I MutationVariant Associated with Hearing Loss Under 40 in an Adult Taiwanese Population

Monday, October 13, 2025
12:00 PM - 1:00 PM EDT
Location: OTO EXPO, Posters
Has Audio

    Presenting Author(s)

  • Ting-Ting Yen, MD

    Taichung City, Taiwan (R.O.C.)
    Taichung Veterans General Hospital
    Taichung, Taichung, Taiwan (Republic of China)

    • Co-Author(s)

  • TC

    Ting-Gang Chang, MD

    Attending doctor
    Taichung Veterans General Hospital
    Taichung, Taichung, Taiwan (Republic of China)

    • Senior Author(s)

  • YC

    Yi-Ming Chen, MD

    Taichung Veterans General Hospital, United States

Disclosure(s):
Ting-Ting Yen, MD: No relevant relationships to disclose.
Ting-Gang Chang, MD: No relevant relationships to disclose.


Introduction: Gap junction protein beta 2 (GJB2) p.V37I variant is the most important hereditary cause of sensorineural hearing loss (SNHL) in Taiwan.However, the audiological features of GJB2 p.V37I variant in the adult population are unknown. The objectives of the present study were to investigate the audiological features of GJB2 p.V37I variant among an adult Taiwanese population.

Methods: In this case-control study, data were sourced from the Taiwan Precision Medicine Initiative (TPMI) at Taichung Veterans General Hospital. A total of 96 GJB2 p.V37I carriers and 95 non-carriers were recalled between November 2022 and July 2024. Participants underwent pure-tone audiometry, completed the Tinnitus Handicap Inventory (THI), and provided medical histories. Chi-square tests and Fisher's exact tests compared categorical variables between groups, while logistic regression assessed associations between various factors, THI scores, and hearing loss.

Results: The GJB2 p.V37I carrier group exhibited significant hearing loss at all frequency (p < 0.001) with greater severity at higher frequencies. Hearing loss proportions were higher at higher frequency. Factors affecting hearing loss included the GJB2 p.V37I variant (odds ratio [OR]: 6.81) and age (OR: 1.08). The only factor related to higher THI score was noise exposure. Notably, carriers younger than 40 years had 1kHz, 2kHz, 4kHz and 8 kHz hearing loss .

Conclusions: Genetic testing for the GJB2 p.V37I variant are highly recommended for patients under 40 years old with bilateral symmteric 1kHz, 2kHz, 4kHz and 8kHz sensorineural hearing loss.