Genotypic and Allelic Frequencies of GJB2 Variants and Features of Hearing Phenotypes in the Chinese Population of the Dongfeng-Tongji Cohort

Overview

Journal Genes (Basel)

Publisher MDPI

Date 2023 Nov 25

PMID 38002950

Authors

Lanlai Yuan

Xiaohui Wang

Xiaozhou Liu

Sen Chen

Weijia Kong

Meian He

Yu Sun

Affiliations

Soon will be listed here.

Abstract

Background: This study aimed to describe the distribution of the genotype and allele frequencies of 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 variants. Pure tone audiometry was employed to measure hearing. Differences in genotype and allele frequencies were analyzed via chi-squared test or Fisher's exact test.

Results: Of the 9910 participants, 5742 had hearing loss. The genotype frequency of the variant c.109G>A was statistically significantly distributed between the normal and impaired hearing groups, but not for the variant c.235delC. A higher frequency of the c.109G>A homozygous genotype was found in the hearing loss group (0.5%) than in the normal hearing group (0.1%). Patients with c.109G>A 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 c.109G>A between the case and control groups, but not in that of the variant c.235delC. Different degrees of hearing loss and various audiogram shapes were observed in patients with c.109G>A and c.235delC homozygous mutations.

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