Interrelationship between the rs1800469 polymorphic locus of the TGF-β1 gene and a decrease in global longitudinal deformation of the left ventricular myocardium in coal mining workers

Introduction. A significant part of the male population of Kuzbass working in the main occupaions of the coal industry, is exposed to a whole range of harmful factors contributing to the development of industrial-related diseases, in particular, cardiovascular diseases. The study of profibrogenic factors is extremely relevant due to the high mortality rate of employable people from diseases of the circulatory system. Among the key markers capable of influencing the expression of type I collagen, which is involved in the processes of fibrosis of many tissues, including myocardial tissue, is transforming growth factor β (TGF-β).

Aim of the study. To investigate the relationship of the TGF-β1 (-509C/T) polymorphism with a decrease in global longitudinal strain of the left ventricular myocardium in coal mining workers using different coal mining methods.

Materials and methods. The study included two hundred eighty men working in the main occupations in mines and coal pits in the South of Kuzbass. The first group consisted of 190 miners engaged in underground coal mining, and the second group included 91 worker from open-pit coal mines. The workers of both groups were divided into sub-groups depending on the disorders of the systolic function of the myocardium in the form of a decrease in global longitudinal strain of the left ventricle. The polymorphic locus of the TGF-β1 gene (rs1800469) was genotyped by Real-Time PCR method using TaqMan probes.

Results. Miners with the C/T heterozygous genotype of the rs1800469 polymorphism of the TGF-β1 gene have a predisposition to a decrease in global longitudinal strain of the left ventricle (OR=1.91; 95% CI (1.03–3.54), p=0.041) with an over-dominant inheritance model, and the carrier state of the C allele in the homozygous condition acts as a protective factor (OR=0.52; 95% CI (0.28–0.97), p=0.038) with the dominant inheritance model. No such patterns have been identified among coal pit workers.

Limitations. The study is limited by the number of genes capable of contributing to the development of myocardial fibrosis.

Conclusion. The predisposition of miners with the C/T heterozygous genotype of the rs1800469 polymorphism of the TGF-β1 gene to a violation of systolic heart function has been established. The C/C homozygous genotype is associated with the resistance to a decrease in global longitudinal strain of the left ventricle. No similar genetic patterns were found in the group of coal pit workers.

Compliance with ethical standards. The study was approved by the local Ethics Committee of the Research Institute for Complex Problems of Hygiene and Occupational Diseases” (Protocol of the Meeting No. 4, §1 dated November 21, 2024) and conducted in accordance with the generally accepted scientific principles of the Helsinki Declaration of the World Medical Association as amended 2013. All participants gave informed voluntary written consent to participate in the study.

Contribution:
Kazitskaya A.S. – statistical processing, writing the text;
Filimonov E.S. – concept and design of the study, editing;
Korotenko O.Yu. – collection of material, editing;
Yadykina T.K. – collection of material and data processing;
Bugaeva M.S. – data processing.
All authors – approval of the final version of the article, responsibility for the integrity of all parts of the article.

Conflict of interest. The authors declare no conflict of interest.

Funding. The study had no sponsorship.

Received: April 22, 2025 / Accepted: June 26, 2025 / Published: August 20, 2025

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