Associations of the 283 <i>A>G (BsmI)</i> polymorphism of the <i>VDR</i> gene with mineral bone tissue density in aluminum industry workers
Authors: Yadykina Tatyana K. , Mikhailova Nadezhda N. , Kochergina Tatyana V. , Zhukova Anna G. 
Published: October 2022

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.