Yuan, L.; Wang, X.; Liu, X.; Chen, S.; Kong, W.; He, M.; Sun, Y. Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort. Genes2023, 14, 2007.
Yuan, L.; Wang, X.; Liu, X.; Chen, S.; Kong, W.; He, M.; Sun, Y. Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort. Genes 2023, 14, 2007.
Yuan, L.; Wang, X.; Liu, X.; Chen, S.; Kong, W.; He, M.; Sun, Y. Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort. Genes2023, 14, 2007.
Yuan, L.; Wang, X.; Liu, X.; Chen, S.; Kong, W.; He, M.; Sun, Y. Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort. Genes 2023, 14, 2007.
Abstract
Background: this study aimed to describe the distribution of the genotype and allele frequencies of GJB2 variants in the Chinese population of the Dongfeng Tongji cohort and to analyze the features of the hearing phenotype. Methods: we used data from 9910 participants in the Dongfeng Tongji cohort in 2013 and selected nine GJB2 variants. Pure-tone audiometry was employed to measure hearing. Differences in genotype and allele frequencies were analyzed by chi-squared test or Fisher's exact test. Results: of the 9910 participants, 5742 had hearing loss. The genotype frequency of the GJB2 variant p.V37I was statistically significantly distributed between the normal and impaired hearing groups, but not for the variant c.235delC. A higher frequency of the p.V37I homozygous genotype was found in the hearing loss group (0.5%) than in the normal hearing group (0.1%). Patients with p.V37I and c.235delC homozygous mutations exhibited varying degrees of hearing loss, mainly presenting sloping and flat audiogram shapes. Conclusions: a significant difference was found in the genotype frequency of the GJB2 variant p.V37I between the case and control groups, but not for the variant c.235delC. Different degrees of hearing loss and various audiogram shapes were observed in patients with p.V37I and c.235delC homozygous mutations.
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