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Abstract：
The aim of this study is to comprehensively investigate the prevalence and distribution patterns of three common genetic variants associated with hearing loss (HL) in Chinese neonatal population. Methods: Prior to June 30, 2023, an extensive search and screening process was conducted across multiple literature databases. R software was utilized for conducting meta-analyses, cartography, and correlation analyses. Results: Firstly, our study identified a total of 99 studies meeting the inclusion criteria. Notably, provinces such as Qinghai, Tibet, Jilin, and Heilongjiang lack large-scale genetic screening data for neonatal deafness. Secondly, in Chinese newborns, the carrier frequencies of GJB2 variants (c.235delC, c.299_300delAT) were 1.63 % (95 %CI 1.52 %-1.76 %) and 0.33 % (95 %CI 0.30 %-0.37 %); While SLC26A4 variants (c.919-2A > G, c.2168A > G) exhibited carrier rates of 0.95 % (95 %CI 0.86 %-1.04 %) and 0.17 % (95 %CI 0.15 %-0.19 %); Additionally, Mt 12S rRNA m.1555 A > G variant was found at a rate of 0.24 % (95 % CI 0.22 %-0.26 %). Thirdly, the mutation rate of GJB2 c.235delC was higher in the east of the Heihe-Tengchong line, whereas the mutation rate of Mt 12S rRNA m.1555 A > G variant exhibited the opposite pattern. Forthly, no significant correlation exhibited the opposite pattern of GJB2 variants, but there was a notable correlation among SLC26A4 variants. Lastly, strong regional distribution correlations were evident between mutation sites from different genes, particularly between SLC26A4 (c.919-2A > G and c.2168A > G) and GJB c.299_300delAT. Conclusions: The most prevalent deafness genes among Chinese neonates were GJB2 c.235delC variant, followed by SLC26A4 c.919-2A > G variant. These gene mutation rates exhibit significant regional distribution characteristics. Consequently, it is imperative to enhance genetic screening efforts to reduce the incidence of deafness in high-risk areas.
摘要：
这项研究的目的是全面调查中国新生儿人群中与听力损失（HL）相关的三种常见遗传变异的患病率和分布模式。方法：在2023年6月30日之前，在多个文献数据库中进行了广泛的搜索和筛选过程。利用R软件进行荟萃分析，制图,和相关分析。结果:第一,我们的研究共确认了99项符合纳入标准的研究.值得注意的是,青海等省,西藏,吉林,黑龙江缺乏大规模的新生儿耳聋基因筛查数据。其次,在中国新生儿中，GJB2变体的载波频率(c.235delC，c.299_300delAT)分别为1.63%(95CI1.52%-1.76%)和0.33%(95CI0.30%-0.37%)；而SLC26A4变体(c.919-2A>G，c.2168A>G)表现出的载体率为0.95%(95CI0.86%-1.04%)和0.17%(95CI0.15%-0.19%)；此外，发现Mt12SrRNAm.1555A>G变体的比率为0.24%(95%CI0.22%-0.26%)。第三，黑河-腾冲系东部的GJB2c.235delC突变率较高，而Mt12SrRNAm.1555A>G变体的突变率表现出相反的模式。第四,没有显著的相关性表现出GJB2变体的相反模式，但SLC26A4变体之间存在显著相关性。最后,来自不同基因的突变位点之间存在很强的区域分布相关性，特别是在SLC26A4(c.919-2A>G和c.2168A>G)和GJBc.299_300delAT之间。结论：中国新生儿中最常见的耳聋基因是GJB2c.235delC变异，其次是SLC26A4c.919-2A>G变体。这些基因突变率表现出显著的区域分布特征。因此,必须加强基因筛查工作，以减少高风险地区的耳聋发生率。
