摘要目的:探讨 GJB2基因p.V37I变异及类型与耳聋致病风险的相关性。 方法:检索时间为建库至2021年4月23日的PubMed、Embase、Cochrane Library、中国知网、万方数据资源及维普等数据库，查找关于 GJB2基因c.109G>A(p.V37I)变异及复合其他位点变异与耳聋相关的病例-对照研究、队列研究以及横断面研究报道。按照纳入与排除标准筛选文献、提取资料并按评价标准评价纳入的研究，采用Stata 12.0软件进行荟萃分析和发表偏倚分析，必要时做敏感性分析。 结果:共纳入22篇文献(英文17篇，中文5篇)，耳聋组7455例，对照组10 464例。荟萃分析结果提示 GJB2等位基因c.109G>A(p.V37I)变异与耳聋致病风险显著相关( OR: 3.56, 95% CI: 2.31-5.47, P<0.001)。按 GJB2基因p.V37I变异的类型进行分析的结果显示：p.V37I(109G>A)纯合变异( OR: 11.36, 95% CI: 5.93-21.74, P<0.001)、复合杂合截短变异( OR: 9.27, 95% CI: 3.97-21.64, P<0.001)与耳聋的致病风险呈显著相关。未发现p.V37I(109G>A)单杂合变异( OR: 1.20, 95% CI: 0.72-2.00, P＝0.478)、复合杂合错义变异( OR: 1.54, 95% CI: 0.98-2.44, P＝0.063)与耳聋的致病风险显著相关。 结论:GJB2基因p.V37I纯合变异及复合其他 GJB2基因位点的截短变异会明显增加耳聋的致病风险，但p.V37I单杂合变异及复合其他 GJB2错义变异不会明显增加耳聋的致病风险。

abstractsObjective:To assess the association of c. 109G>A (p.V37I) variant of the GJB2 gene and its types with the risk of deafness. Methods:PubMed, Embase, Cochrane Library, CNKI, Wanfang, and VIP database were searched for cases with GJB2 gene c. 109G>A (p.V37I) variant and its compounds with variants of other sites from case-control studies, cohort studies and cross-sectional studies. The search time was from the establishment of database to April 2021. Two researchers have independently screened the literature according to the inclusion and exclusion criteria, extracted the data, and evaluated the included studies according to the criteria. Stata 12.0 software was used for the meta-analysis and publication bias analysis, and a sensitivity analysis was also carried out when necessary. Results:A total of 22 articles (17 in English and 5 in Chinese) were included. There were 7 455 cases in the deafness group and 10 464 cases in the control group. The results of meta-analysis showed the c. 109G>A (p.V37I) variant to be strongly associated with the risk of deafness ( OR: 3.56, 95% CI: 2.31-5.47, P<0.001). Analysis based on the mutational type also suggested c. 109G>A (p.V37I) homozygosity ( OR: 11.36, 95% CI: 5.93-21.74, P<0.001) and compound loss of heterozygosity mutations ( OR: 9.27, 95% CI: 3.97-21.64, P<0.001) to be strongly associated with the risk of deafness. By contrast, heterozygous c. 109G>A (p.V37I) variant ( OR: 1.20, 95% CI: 0.72-2.00, P=0.478) and compound heterozygous missense mutation ( OR: 1.54, 95% CI: 0.98-2.44, P=0.063) are not strongly associated with the risk. Conclusion:The homozygous c. 109G>A (p.V37I) variants of the GJB2 gene and its compound deletional mutation with another GJB2 allele can significantly increase the risk of deafness. Heterozygous c. 109G>A (p.V37I) variant of the GJB2 gene or its compound with a missense mutation of another GJB2 allele do not increase the risk.