Global prevalence of the mitochondrial MT-RNR1 A1555G variant in non-syndromic hearing loss: A systematic review and meta-analysis

Abstract

Non-syndromic sensorineural hearing loss (NSHL) significantly affects quality of life and is often associated with the MT-RNR1 A1555G variant. This meta-analysis investigated the global prevalence of the A1555G variant, considering factors such as age of onset and aminoglycoside exposure. A systematic review of 97 studies published between 2000 and the present included 31,013 participants. The overall prevalence of the A1555G variant was 3.37 %, with higher rates in East Asia. Subgroup analysis revealed variant frequencies of 7.24 % in postlingual deafness cases and 1.45 % in prelingual cases. Familial cases and those with aminoglycoside exposure showed significantly higher prevalence rates (9.2 % vs. 1.9 %). These findings underscore the variant’s critical role in NSHL etiology and the necessity of incorporating genetic screening into clinical practices, especially for patients with aminoglycoside exposure.