Analysis of polymorphic loci of candidate genes in patients with occupational diseases

Introduction. Development and progress features of vibration syndrome (VS) and noise-induced hearing loss (NIHL) are determined by genetic factors to a certain extent. The latter define the relevance of the search for individual approaches to prevention and medical support of patients with these occupational diseases.

The aim of the study was to investigate the genotypes distribution of polymorphic loci of candidate genes in patients with occupational diseases caused by vibration and noise impact.

Materials and methods. Polymorphic variants of the HSPA1B (rs1061581), IL17A (rs2275913), IL10 (rs1800872), and TNF-α (rs1800629) genes of three hundred ninety eight males were studied using PCR-RFLP and real-time PCR methods, including 268  patients with VS divided into two groups: VShtv (n = 117) and VScomb (n = 151), in which VS was caused by exposure to hand-transmitted vibration (HTV) or combined exposure to HTV and whole-body vibration (COMB), respectively. The study also involved 96 patients with occupational NIHL diagnosis and 34 individuals of the comparison group without occupational contact with physical factors.

Results. The increase in GG-HSPA1B (1267A/G) genotype frequency  (p=0.058) was found in VScomb patients compared with those from the VShtv group. There was a significant difference in carriers of the C/C genotype of the IL10 (rs1800872) polymorphic locus in the group of NIHL patients relative to the comparison group (p=0.036). The results of regression analysis indicate the carriage of the A allele to reduce the risk of NIHL development.

Limitations. The limitations include the number of examined cases in all groups, especially in comparison group and the lack of groups of workers with no occupational exposure to a physical factor.

Conclusion. The obtained results expand the understanding of the genetic features able to determine sensitivity to the physical factors exposure that define the development of occupational pathology and the issues to be resolved at the next stage of research.

Compliance with ethical standards. The study was approved by the Biomedical Ethics Committee of the East Siberian Institute of Medical and Ecological Research (Protocols No. 6 of 15.11.2012 and No. 5 of 20.03.2023). The voluntary informed consent was signed by all study participants.

Contribution:
Chernyak Yu.I. — concept and study design, final statistical data analysis, text writing and editing;
Merinova A.P. — sample collection, implementation of methods and data analysis.
All authors are responsible for the integrite of all parts of the manuscript and approval of the manuscript final version. 

Acknowledgment. The study was supported within a framework of State Assignment for East Siberian Institute of Medical and Ecological Research (Nos. 0534-2016-0006 and 123032000007-8). The authors are grateful to Institute’s Clinic-physicians for organizing the medical examination, as well as to project leader, Prof. Oleg L. Lakhman for useful comments in the process of the manuscript preparing. 

Conflict of interests. The authors declare no conflicts of interest.

Received: March 23, 2023 / Accepted: June 6, 2023 / Published: August 30, 2023