Carrier frequencies, trends, and geographical distribution of hearing loss variants in China: The pooled analysis of 2,161,984 newborns

• DOI: 10.1016/j.heliyon.2024.e24850
• Publication Date: 2024-01-28T13:39:54Z
• Authors: Jia Feng; Zhangrui Zeng; Sijian Luo; Xuexue Liu; Qing Luo; Kui Yang; Guanbin Zhang; Jinbo Liu
• Keywords: Social sciences (General); H1-99; China; Meta-analysis; Q1-390; 0303 health sciences; 03 medical and health sciences; Science (General); Genetic screening; Hearing loss; Newborns; Research Article

ObjectiveThe aim of this study is to comprehensively investigate the prevalence and distribution patterns three common genetic variants associated with hearing loss (HL) in Chinese neonatal population. Methods: Prior June 30, 2023, an extensive search screening process was conducted across multiple literature databases. R software utilized for conducting meta-analyses, cartography, correlation analyses. Results: Firstly, our identified a total 99 studies meeting inclusion criteria. Notably, provinces such as Qinghai, Tibet, Jilin, Heilongjiang lack large-scale data deafness. Secondly, newborns, carrier frequencies GJB2 (c.235delC, c.299_300delAT) were 1.63 % (95%CI 1.52 %–1.76 %) 0.33 0.30 %–0.37 %); While SLC26A4 (c.919-2A > G, c.2168A G) exhibited rates 0.95 0.86 %–1.04 0.17 0.15 %–0.19 Additionally, Mt 12S rRNA m.1555 A G variant found at rate 0.24 (95 CI 0.22 %–0.26 %). Thirdly, mutation c.235delC higher east Heihe-Tengchong line, whereas opposite pattern. Forthly, no significant pattern variants, but there notable among variants. Lastly, strong regional correlations evident between sites from different genes, particularly GJB c.299_300delAT. Conclusions: The most prevalent deafness genes neonates variant, followed by c.919-2A variant. These gene exhibit characteristics. Consequently, it imperative enhance efforts reduce incidence high-risk areas.