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№3(6) 2023

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DOI 10.37219/2528-8253-2023-3-29

Amirkhanova M, Dieieva Y

THE EFFECT OF POLYMORPHISMS IN THE BCL2, BID AND BAX GENES ON THE DEVELOPMENT
OF SENSORINEURAL HEARING LOSS

 
Amirkhanova Margaryta
Bogomolets National Medical University
Assistant of the Department of Otolaryngology,
E-mail: Margaritaroma365@gmail.com
ORCID ID: https://orcid.org/0000-0003-4106-5057
Dieieva Julia V
Bogomolets National Medical University, Kyiv, Ukraine
Head of the department of Otorhinolaryngology
MD, PhD, professor
E-mail: deyeva@bigmir.net
ORCID ID: 0000-0003-0552-1254
https://www.scopus.com/authid/detail.uri?authorId=55359076200

Abstract

Background: In recent decades, one of the areas of polymorphism research focuses on studying the role of apoptosis in the pathogenesis of perceptive hearing impairment. Studying the polymorphism of the anti-apoptotic and pro-apoptotic genes, and their impact on the occurrence and development of perception hearing disorders through apoptosis could serve as a basis for genetic diagnostics and gene therapy of sensorineural hearing loss in the future.

Objectives: To assess the effect of polymorphisms in the Bcl-2, Bax, and Bid genes on the development of sensorineural hearing loss.

Study Design: Case-control study.

Materials and Methods: The study included 41 patients with perception hearing disorders in the main group and the control group consisted of 48 individuals without signs of hearing impairment. The following genetic variants were investigated: the polymorphism Bcl2 (rs2279115); Bid (rs8190315) and Bax (rs4645878) genes. Statistical analysis of the data: non-parametric tests were used to analyze the statistical differences between the test and control values. A critical level of significance was set at 0.05. Bonferroni correction was applied to each p-value of any SNP. For an additional assessment of the probability of the obtained results, the odds ratio (OR) with a 95% confidence interval was calculated. An online calculator (www.gigacalculator.com) was used for this purpose.

Results: A significant association was found between the Bcl-2 gene polymorphism and the risk of developing perception disorders in individuals working in noise (ρ<0.05): the homozygous genotype C/C and heterozygous genotype C/A increase the risk of development of sensorineural hearing loss. C allele was statistically significantly more prevalent in patients in the main research group. No significant association was found between the Bid and Bax gene polymorphisms (ρ>0.05). It was found that the combination of the CC/CA (Bcl2 gene) and AG/GG (Bax gene) genotypes significantly increases the risk of developing perception disorders.

Conclusions: Our study indicates that the C allele of the Bcl2 gene was statistically significantly associated with increased risk of developing sensorineural hearing loss. These findings suggest new research should be conducted in the field of polymorphisms and their role in the development of diseases of the inner ear.

Keywords: perception disorders, polymorphisms, genotype, genes, apoptosis, sensorineural hearing loss.

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