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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.
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.
Introduction. The long-term highly toxic effect of fluorides on the body causes the development of production-related pathology of the musculoskeletal system and mineral metabolism in aluminum industry workers. Bone and joint destruction occurring against the background of chronic intoxication has a hereditary component. A molecular genetic study of the generalized form of fluoride osteopathy will allow to establish associations of the BsmI polymorphism of the VDR gene with violations of the architectonics of bone tissue and to determine the need for the use of modern methods of osteological analysis in the early diagnosis of chronic occupational intoxication with fluoride compounds. The study aims to learn the associative relationship of the degree of change in bone mineral density with the genotypes of the BsmI polymorphism of the VDR gene in aluminum industry workers. Materials and methods. We have carried out the analysis of the features of the pathogenesis of osteoporosis, osteopenia and osteosclerosis in workers of the main professions of aluminum production with the use of molecular and clinical research methods. Specialists have examined 170 workers with chronic occupational intoxication with fluoride compounds and 57 individuals with individual signs of fluoride exposure to the skeleton. We have completed osteodensitometry by two-energy photon X-ray absorptiometry. Experts conducted a detection of polymorphism 283 A>G (BsmI) VDR by PCR Real Time. Results. There is a correspondence between the registration of the frequency of genotypes of polymorphism 283 A>G (BsmI) of the vitamin D receptor gene corresponding to the Hardy-Weinberg law (p>0.05). Experts have established significant differences in the frequency distribution of genotypes and alleles in groups in accordance with densitometry data. A decrease in bone mineral density in the area of the distal diaphysis of the femur is associated with the AG VDR genotype. Osteoporosis at the L1-L4 level is associated with GG VDR, the G allele. Carriers of the AA VDR genotype and the A allele are resistant to the development of osteoporosis and osteosclerosis. In the group with a combined form of osteoporosis, the AG VDR genotype prevails. Limitations. There was a limit on the number of highly skilled workers in the aluminum industry who have been on inpatient treatment in the Research Institute of Complex Hygiene Problems and Occupational Diseases. Conclusion. We have revealed the association of BsmI polymorphism of the VDR gene with the development of toxic fluoride osteopathy in various parts of the skeleton in the structure of occupational pathology of aluminum industry workers. The GG genotype at the L1-L4 vertebral level is associated with the development of osteoporosis. Researchers have identified a high a high degree of association of the AA genotype with resistance to osteosclerosis. Osteoporosis combined with articular syndrome is associated with the AG genotype, the G allele, which determines violations of the architectonics of long tubular bones. The owners of the A allele are resistant to osteoporosis, are distinguished by a higher bone component of the distal, axial skeleton. Ethics. Specialists have conducted the survey of aluminum industry workers at the Clinic of the Research Institute of Complex Problems of Hygiene and Occupational Diseases in accordance with the Ethical principles of conducting scientific and medical research with human participation ("Rules of Clinical Practice in the Russian Federation", Order of the Ministry of Health of the Russian Federation No. 266, 2003, Helsinki Declaration of the World Medical Association "Ethical Principles of Scientific medical Research with human participation", 2013). The study was conducted with the written consent of the subjects.
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