The 283 А>G (BsmI) VDR gene polymorphism as a predictor of osteoporosis complicated by chronic pyelonephritis in aluminum production workers
Authors: Yadykina Tatyana K. , Mikhailova Nadezhda N. , Semenova Elena A. , Zhukova Anna G. , Panev Nikolay I. 
Published: July 2022

Introduction. In the structure of the morbidity of workers in the aluminum industry the leading place are occupied by bone and joint pathology and disorders of mineral metabolism, caused by prolonged exposure to toxic fluoride compounds. The study of the molecular genetic basis for the development of changes in bone metabolism and concomitant pathology of the kidneys in chronic occupational intoxication with fluorine compounds will make it possible to establish an associative relationship between the polymorphism of certain genes and the likelihood of developing these diseases. The aim of the study was to determine the significance of detecting BsmI VDR polymorphism as a predictor of osteoporosis associated with chronic kidney disease in workers of the main professions of aluminum production on the basis of clinical and genetic analysis. Materials and methods. Based on molecular-genetic and clinical methods, a comprehensive study of the prevalence of fluorine osteopathy was carried out with the determination of bone density parameters in 217 workers in the main professions of aluminum smelting under conditions of chronic exposure to high doses of fluorine on the body and in the comparison group (57 individuals) without occupational pathology. Results. When examining workers, it was established that the frequency of registration of BsmI VDR polymorphism genotypes corresponded to the Hardy-Weinberg law. It was determined that the GG VDR genotype is a predictor of osteoporosis (p=0,0034), and carriers of the AA genotype are resistant to its development (p=0,0001). An associative relationship of the heterozygous AG VDR genotype with the development of chronic occupational intoxication with fluorine compounds was revealed (p=0,0232). It has been shown that osteoporosis associated with chronic kidney disease is associated with the G allele of the GG VDR genotype. Conclusions. In the structure of professional pathology of metallurgists employed in the production of aluminum, against the background of hyperplastic changes in bone tissue due to an increase in its mass, there is a significant decrease in mineral density (p=0,0047). The allelic specificity of the VDR gene associated with the development of toxic osteopathies was revealed. The GG genotype is associated with the development of osteoporosis. A high degree of association of the AG genotype (p=0,0232) with fluoride intoxication was shown. Osteoporosis associated with chronic kidney disease is associated with the GG VDR genotype and the G allele of the 283 A>G (BsmI) VDR polymorphism, which determines progressive disorders of mineral metabolism and aggravates the course of fluorosis in workers. Ethics. The examination of aluminum production workers was carried out in the hospital of the Research Institute for Complex Problems of Hygiene and Occupational Diseases in strict accordance with the ethical principles of conducting scientific and medical research with human participants, developed on the basis of the Helsinki Declaration by the World Medical Association "Ethical principles of conducting scientific medical research with human participants" with amendments of 2013, "Rules of Clinical Practice in the Russian Federation" approved by the Order of the Ministry of Health of the Russian Federation No. 266 dated 06/19/2003. The collection of clinical history data was carried out during an oral questionnaire face to face with a written informed consent to participate in the study and analysis of medical histories according to 025/u-87 form.