Variant frequency of GJB2 c.109G>A (p.Val37Ile) in the general Chinese population: A systematic review and meta-analysis

IF 1.3 4区 医学 Q3 OTORHINOLARYNGOLOGY
Jiao Zhang , Dayong Wang , Jing Guan , Jiajun Du , Jin Li , Lei Zhang , Chunyan Liu , Xiaonan Wu , Qiuju Wang
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引用次数: 0

Abstract

Objective

This study systematically evaluates the frequency and geographic distribution of the GJB2 c.109G > A (p.Val37Ile) variant in the Chinese population, 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 through 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. Funnel plots and Egger's test were employed to assess publication bias.

Results

A total of 37 studies were included, encompassing 364,088 individuals across 18 provinces in China. Meta-analysis indicated that the overall carrier rate of the GJB2 c.109G > A variant was 11.6 % (95 % CI: 9.5 %–14.1 %), and the allele frequency was 6.3 % (95 % CI: 5.2 %–7.7 %). Stratified analysis revealed that both the carrier rate (14.5 %, 95 % CI: 12.4 %–17.0 %) and allele frequency (8.1 %, 95 % CI: 7.0 %–9.3 %) were considerably higher in southern Chinese populations compared to northern regions (carrier rate 5.3 %, 95 % CI: 4.0 %–6.9 %; allele frequency 2.7 %, 95 % CI: 2.2 %–3.3 %), with statistically significant differences (P < 0.05).

Conclusion

The GJB2 c.109G > A (p.Val37Ile) variant exhibits a relatively high carrier rate and allele frequency within the general Chinese population, with significant regional variation. These findings offer valuable insights for genetic counseling, disease prevention, and hearing health policy, and they highlight the need to account for regional and ethnic diversity in genetic studies.
中国普通人群GJB2 c.109G>A (p.Val37Ile)变异频率:系统回顾和荟萃分析
目的系统评价中国人群GJB2 c.109G > A (p.Val37Ile)变异的频率和地理分布,为遗传性听力损失的预防和控制提供数据驱动依据。方法对pubmed、Embase、Science Direct、Cochrane图书馆、中国生物医学文献数据库、中国国家知识基础设施和万方数据系统等7个数据库进行全面的文献检索,检索时间从数据库建立到2025年5月31日。根据预先确定的纳入和排除标准筛选研究。采用r4.4.2进行数据分析。采用meta分析计算变异携带者率、等位基因频率和相应的95%置信区间。采用漏斗图和Egger检验评估发表偏倚。结果共纳入37项研究,涉及中国18个省份的364,088人。meta分析显示,GJB2 c.109G >; A变异的总携带率为11.6% (95% CI: 9.5% ~ 14.1%),等位基因频率为6.3% (95% CI: 5.2% ~ 7.7%)。分层分析显示,中国南方人群的带菌率(14.5%,95% CI: 12.4% ~ 17.0%)和等位基因频率(8.1%,95% CI: 7.0% ~ 9.3%)均显著高于北方人群(带菌率5.3%,95% CI: 4.0% ~ 6.9%;等位基因频率2.7%,95% CI: 2.2% ~ 3.3%),差异有统计学意义(P < 0.05)。结论GJB2 c.109G > A (p.Val37Ile)变异在中国普通人群中具有较高的携带者率和等位基因频率,且存在显著的区域差异。这些发现为遗传咨询、疾病预防和听力健康政策提供了有价值的见解,并强调了在遗传研究中考虑区域和种族多样性的必要性。
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来源期刊
CiteScore
3.20
自引率
6.70%
发文量
276
审稿时长
62 days
期刊介绍: The purpose of the International Journal of Pediatric Otorhinolaryngology is to concentrate and disseminate information concerning prevention, cure and care of otorhinolaryngological disorders in infants and children due to developmental, degenerative, infectious, neoplastic, traumatic, social, psychiatric and economic causes. The Journal provides a medium for clinical and basic contributions in all of the areas of pediatric otorhinolaryngology. This includes medical and surgical otology, bronchoesophagology, laryngology, rhinology, diseases of the head and neck, and disorders of communication, including voice, speech and language disorders.
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