// Genotype-guided Recall Delineates the Adult Auditory Phenotype in GJB2 p.V37I Homozygotes: High-frequency Vulnerability and Environmental Modulation
本研究以基因引導病例對照分析，針對東亞成人GJB2 p.V37I純合子聽力進行評估｜結果顯示純合子具有對稱性高頻聽力損失，且發生率高於對照組，與基因型及年齡獨立相關｜噪音暴露影響耳鳴但非聽力受損，建議對p.V37I相關聽力障礙進行個別化諮詢及定期監測。
// This study examined the adult hearing profile of GJB2 p.V37I homozygotes in East Asians using genotype-guided case-control analysis. Homozygotes showed symmetric, high-frequency hearing loss with increased prevalence compared to controls, independently associated with genotype and age. Noise exposure influenced tinnitus but not hearing loss independently. These findings support tailored counseling and monitoring for p.V37I-related hearing impairment in adults.
Published 2026年5月19日
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