摘要目的:系统评估中国耳聋患者中 GJB2 c.109G>A（p.Val37Ile）的变异频率及其地域分布特征，为遗传性聋的防控提供循证依据。 方法:检索Pubmed、Embase、Science Direct、Cochrane Library、中国生物医学文献数据库、中国期刊全文数据库、万方数据资源系统共7个数据库，时间为建库至2025年5月31日。按照纳入排除标准筛选文献，使用R软件（4.4.2版）进行数据分析，通过Meta分析计算 GJB2 c.109G>A（p.Val37Ile）变异的携带率、等位基因频率及95%置信区间，采用漏斗图及Egger检验评估发表偏倚。 结果:共纳入53项研究，覆盖中国17个省份共计28 430人。Meta分析显示，中国耳聋患者 GJB2 c.109G>A（p.Val37Ile）变异的总体携带率为11.2%（95% CI：8.8%~13.7%），等位基因频率为6.7%（95% CI：5.0%~8.3%）。亚组分析发现中国南方的变异频率显著高于中国北方（ P<0.05）；中国南方人的携带率为16.0%（95% CI：12.3%~19.8%），等位基因频率为10.5%（95% CI：7.5%~13.4%）；而中国北方人的携带率为3.4%（95% CI：2.5%~4.3%），等位基因频率为2.0%（95% CI：1.5%~2.6%）。 结论:GJB2 c.109G>A（p.Val37Ile）在中国耳聋人群中具有较高的携带率和等位基因频率，且存在显著的南高北低的地域分布特征。该发现不仅为耳聋的遗传筛查和咨询提供参考，也可为制定区域性的听力保健策略提供循证依据。

abstractsObjective:This study aims to systematically evaluate the frequency and geographic distribution of the GJB2 c.109G>A (p.Val37Ile) variant in the Chinese patients with hearing loss, providing a data-driven basis for hereditary hearing loss prevention and control. Methods:A comprehensive literature search was conducted across seven databases-PubMed, Embase, Science Direct, Cochrane Library, Chinese Biomedical Literature Database, China National Knowledge Infrastructure and Wanfang Data System-from their inception to May 31, 2025. Studies were screened based on predefined inclusion and exclusion criteria. Data analysis was performed using R 4.4.2. Meta-analysis was applied to calculate the variant carrier rate, allele frequency, and corresponding 95% confidence intervals of GJB2 c.109G>A (p.Val37Ile). Funnel plots and Egger′s test were employed to assess publication bias. Results:A total of 53 studies were included, covering 28 430 individuals with hearing loss across 17 provinces in China. Meta-analysis showed that the overall carrier rate of the GJB2 c.109G>A (p.Val37Ile) variant was 11.2% (95% CI: 8.8%-13.7%), and the allele frequency was 6.7% (95% CI: 5.0%-8.3%) in the Chinese patients with hearing loss. Subgroup analysis found that the variant frequency in southern China was significantly higher than in northern China ( P<0.05). The carrier rate in southern Chinese was 16.0% (95% CI: 12.3%-19.8%),that with an allele frequency of 10.5% (95% CI: 7.5%-13.4%). In northern China, the carrier rate was 3.4% (95% CI: 2.5%-4.3%), with an allele frequency of 2.0% (95% CI: 1.5%-2.6%). Conclusions:The GJB2 c.109G>A (p.Val37Ile) variant exhibits a relatively high carrier rate and allele frequency among the Chinese patients with hearing loss, with a significant regional distribution pattern from south to north. This finding not only provides an important reference for genetic screening and counseling of hearing loss, but also offers evidence-based support for developing regional hearing health strategies.