Association of hANP (rs5065) gene polymorphism with dust lung pathology and accompanying structural and functional changes in the myocardium among miners

Introduction. An important role in the mechanisms of regulation of the cardiovascular system is played by atrial natriuretic peptide, ANP, which is synthesized by the atria of the heart in response to physiological or pathogenetic stimuli. The polymorphism of the hANP (rs5065) gene has been studied in people with cardiovascular diseases, however, its contribution to the mechanisms of development of occupational and industrially caused pathology needs to be studied, since the complex impact of unfavorable factors of the production environment leads to the risk of developing combined pathology of the bronchopulmonary and cardiovascular systems in coal miners.

The purpose was to study the association of hANP (rs5065) gene polymorphism with dust lung pathology and accompanying structural and functional changes in the myocardium among Kuzbass miners.

Materials and methods. For genetic research, venous blood was taken from 179 Kuzbass miners. The main group consisted of 114 miners of the main professions with a previously proven diagnosis of "dust lung pathology", the comparison group included 65 individuals without a proven diagnosis working in similar sanitary and hygienic conditions. Isolation of genomic DNA from blood cells was carried out by phenol-chloroform extraction method followed by precipitation with ethanol. The polymorphic variant of the hANP (rs5065) gene was analyzed using real-time polymerase chain reaction. All workers underwent transthoracic echocardiography with the determination of structural and functional parameters of the left ventricle of the heart.

Results. The chance of detecting the homozygous A/A genotype of the hANP gene in miners with dust pathology is 2.5 times higher than in the comparison group (χ² — 7.190; р<0.008; OR — 2.453, CI 95% 1.262–4.768). The G/G genotype of the hANP gene is protective against the development of bronchopulmonary pathology in coal miners. In the miners with long-term work experience, a relationship between the presence of dust lung pathology and the development of diastolic dysfunction of the left ventricle of types 1 and 2 (χ² — 9.922; p=0.002; OR — 5.117, CI 95% 1.842–14.218) was found. The heterozygous mutant A/G genotype of the hANP (rs5065) gene is a risk factor for the development of diastolic dysfunction of types 1 and 2 in underground workers of main professions (χ² — 4.442; p=0.0036; OR — 2.433, CI 95% 1.057–5.879).

Limitations. The study was limited to the number of miners who underwent periodic medical examinations and were hospitalized at the Research Institute for Complex Problems of Hygiene and Occupational Diseases.

Conclusion. The polymorphism of the hANP (rs5065) gene is associated with the development of occupational lung pathology and accompanying structural and functional changes in the myocardium among miners of the South of Kuzbass.

Ethics. The examination of the patients corresponded to the ethical standards of the Bioethical Committee of the Research Institute for Complex Problems of Hygiene and Occupational Diseases developed in accordance with the Helsinki Declaration of the World Medical Association "Ethical Principles of Conducting Scientific Medical Research with Human Participation" (2000), as amended in 2013 and the "Rules of Clinical Practice in the Russian Federation" approved by Order of the Ministry of Health of the Russian Federation No. 266 dated 19.06.2003. All patients signed an informed consent before the examination.

Contribution:
Zhukova A.G. — concept and design of the study, writing text, editing;
Kazitskaya A.S. — collection and processing of material, conducting genetic research, statistical processing, editing;
Yadykina T.K. — conducting genetic research;
Korotenko O.Yu. — collection and processing of material, editing;
Gulyaeva O.N. — conducting genetic research, statistical processing.

Funding. The study had no funding.

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

Received: 25.05.2022 / Accepted: 25.05.2022 / Published: 25.06.2022

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