Use of molecular genetic research methods in the diagnosis of systolic myocardial dysfunction in workers in the Kuzbass coal industry

Introduction. Unfavorable factors of the industrial environment have a combined effect on the body in workers in the coal mining industry. They cause the formation and progression of not only occupational, but also to production-related pathology, including cardiovascular diseases, which have the most frequent complications in the form of heart failure. Numerous studies indicate the genetic determination of the individual body’s susceptibility to the influence of industrial factors, which can be used to create a personalized approach to the preclinical diagnosis of cardiovascular diseases and their possible complications.

The aim of the study was to analyze the contribution of the polymorphic COL1A1 locus (rs1800012) to the formation of systolic disorders in the form of a decrease in global longitudinal deformation of the left ventricular myocardium in Kuzbass miners with long labor duration.

Materials and methods. The study included one hundred fifty nine miners with long labor duration at the South Kuzbass agglomeration working in the main occupations. The first group consisted of 113 miners with normal global longitudinal strain of the left ventricle. The second group included 46 underground workers with impaired systolic function of the myocardium in the form of a decrease in global longitudinal strain of the left ventricle. Systolic abnormalities were verified using speckle-tracking echocardiography. Polymorphic variants of the COL1A1 gene (rs1800012) were determined applying Real-Time PCR using TaqMan probes.

Results. When studying the polymorphic COL1A1 (rs1800012) locus, a statistically significant association of the minor T allele and the homozygous T/T genotype with the formation of cardiac systolic function disorders in the form of a decrease in longitudinal strain of the left ventricle was found (OR=2.26; 95% CI: 1.23–4.18 and OR=4.89; 95% CI: 1.36–17.62, respectively). A protective effect was identified for the G allele in relation to the development of systolic dysfunction in miners with long labor duration. The probability of detecting this allele among individuals with impaired systolic function decreased by 2.3 times (OR=0.44; 95% CI: 0.24–0.81).

Limitations. The study is limited by the number of genetic polymorphisms that play a role in impaired systolic function of the myocardium.

Conclusion. In miners with both long labor duration and minor T allele and homozygous T/T genotype of the rs1800012 polymorphism of the COL1A1 gene the predisposition to the formation of cardiac systolic function disorders in the form of a decrease in global longitudinal strain of the left ventricle was found. The carriage of the normal G allele acts as a protective factor in the development of systolic dysfunction.

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 dated November 21, 2024), conducted in accordance with the commonly 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. – collection of material, statistical processing, writing the text;
Yadykina T.K. – collection of material and data processing;
Korotenko O.Yu. – collection of material;
Bugaeva M.S. – data processing.
All authors are responsible for the integrity of all parts of the manuscript and approval of the manuscript final version.

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

Funding. The study had no sponsorship.

Received: April 24, 2026 / Accepted: July 1, 2026 / Published: August 14, 2026

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