时间标签：数据日期 2026-11-03 · 生成时间 2026-11-03 05:30（Asia/Shanghai）｜ 检索窗口 PubMed edat 2026/10/31 – 2026/11/03 ｜ 情报发生日期 2026-11-03
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摘要（PubMed 原文节选）
BACKGROUND: GJB2 c.109G > A (p.Val37Ile) is a common missense variant in East Asian populations with incomplete penetrance and heterogeneous hearing phenotypes. This analysis estimated its penetrance and genotype-phenotype correlation. METHODS: We searched PubMed, Web of Science, CBM, CNKI and Wan fang Data through December 1, 2025, for studies with extractable GJB2 c.109G > A (p.Val37Ile) and hearing phenotypes. Random-effects models estimated pooled proportions with 95% CIs; subgroup analyses by age, genotype, and severity, plus sensitivity and publication-bias analyses. RESULTS: Thirty-one studies were included. The study populations comprised 604,999 individuals; 1211 biallelic carriers …
对本项目的价值
参考价值：属「生物标志物 / 建模方法学」方向；皮肤 / 感官 / 口腔老化栏目可用作本项目文献库与综述素材。 ｜ 价值分 1.7/5（★★☆☆☆）
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原文题录
- 中文题名：GJB2 c.109G>A 相关听力损失的不完全外显与异质表型
- 英文标题：Incomplete penetrance and heterogeneous phenotypes of hearing loss associated with GJB2 c.109G>A (p.Val37Ile).
- 期刊与标识：Int J Pediatr Otorhinolaryngol · PMID 42967444 · DOI 10.1016/j.ijporl.2026.113067 · EDAT 2026-11-01