Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Δευτέρα 15 Μαρτίου 2021

To the question of genetic predisposition to the development of professional sensorineural hearing loss

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Vestn Otorinolaringol. 2021;86(1):15-19. doi: 10.17116/otorino20218601115.

ABSTRACT

Objective was to study single-nucleotide polymorphisms (SNP) in CAT, NCL, HSPA1L, PCDH15, and PON2 genes and their associations with hearing impairment among the people working among noise-exposed workers of the mashine-building plant (JSC «Krasmash», Krasnoyarsk, Eastern Siberia, Russia).

MATERIALS AND METHODS: The 443 employees of Krasmash JSC, who have been working under conditions of increased noise for at least 1 year, were surveyed and examined. A hearing study was performed by speech and tonal audiometry. Tonal audiometry was carried out in accord with according to a standard method in the frequency range 125-8000 Hz. People with chronic hearing impairment, survivors of meningitis and family history of hearing impairment were excluded from the study. The allelic composition of the studied genes was determined in the remaining group of 288 workers (study group). Polymorphisms were detected using bioluminescent method, developed by the authors earlier. The study group comprised 122 people with hearing impairment (experimental group) and 166 people without impairment (control group).

RESULTS: The genotyping results of on allelic variants rs494024 (CAT), rs7598759 (NCL), rs2227956 (HSPA1L), rs7095441 (PCDH15) and rs7785846 (PON2) showed that their frequencies in the study group did not differ and were comparable with those for the European population. No statistically significant differences were revealed in the distribution of the genotypes of the studied mutations between the experimental and control groups. Also no statistically significant associations we found between hearing impairment and availability of two or several SNPs, or these SNPs and clinical characteristics of the disease (degree of hearing impairment, tinnitus). In the group of workers with an experience of 5 to 16 years, an association was found for hearing impairment and SNP rs494024, as well as when it is combined with rs7598759.

CONCLUSIONS: The associations between SNP rs7598759, rs2227956, and rs7095441 and hearing impairment were not found. In the group of workers with 5-16 year experience, this association was found for SNP rs494024, as well as when it is combined with rs7598759. Discovered associations require further study.

PMID:33720645 | DOI:10.17116/otorino20218601115

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