Introduction. Th e actual problem of modern occupational health is the study of the role of exogenous and endogenous factors in the development of occupational pathology of the bronchopulmonary system. То identify groups at increased risk of developing a dusty pathology of the bronchopulmonary system, it is necessary to conduct a comprehensive study of clinical and genetic factors, as well as to determine the most signifi cant diagnostic markers of the development of this pathology.The aim of the study was to study the genetic status of a set of biochemical and molecular genetic markers, as well as biochemical parameters of blood and respiratory function in coal industry workers with chronic dust bronchitis and persons of the control group.Materials and methods. 115 workers of coal mines from the South of Kuzbass aged from 39 to 58 years were examined in the Clinic of the Institute. Among them — 71 people with a previously established diagnosis of chronic dust bronchitis (the main group) and 44 people of the control group of persons working in the same sanitary conditions, but not having this pathology. A complex of clinical, biochemical and genetic methods of research was used in the study, and functional parameters of the bronchopulmonary system were evaluated. Statistical processing of the results was carried out using IBM SPSS Statistics 22 soft ware. Results. Statistically signifi cant diff erences between biochemical (increase in the concentration of ceruloplasmin and α–1antitrypsin) and immunological parameters (increase in the total number of leukocytes and ESR, increase in the concentration of IgG) in miners with chronic dust bronchitis and coal industry workers without this pathology were revealed. The dependence of the functional changes of the respiratory system with the development of professional pathology is determined. Th e persons of the main group showed a statistically signifi cant decrease in functional parameters (forced exhalation per second and lung capacity), increased respiratory failure. A predisposition to the development of dust bronchitis in the owners of the HP 1–1 genotype and resistance to the formation of this pathology in persons with the HP 2–2 genotype were found. Th e study of GSTT 1 deletion polymorphism revealed that carriers of the GSTT 1 «+» variant are most susceptible to the development of chronic dust bronchitis, and owners of the GSTT 1 variant are» resistant to its formation. Th ere was a positive аssociation with the development of dust bronchitis of the holders of the MM phenotype (MN).Conclusions. When working in similar conditions, some workers have a deviation of biochemical and immunological parameters fr om the norm, as well as a violation of the respiratory system, while others have no changes. Th e response of the body to the impact of certain external adverse factors may be due to genetic predisposition or resistance to the development of the disease.
Intrauterine growth retardation is recognized as one of the leading causes of incidence and mortality in infancy and early childhood in all the countries of the world. The causes and mechanisms of development of this process are decisive when choosing the tactics of nursing such children. Of particular importance is the understanding of the functioning of the mother-placenta-fetus system, in particular the mechanisms of suppression of the detoxification function of the placenta in connection with the polymorphisms of the genes of the I and II phases of the xenobiotic biotransformation system. The aim of the study was to determine the relationship between the polymorphism of the genes of the I and II phases of the xenobiotic biotransformation system with the intrauterine fetal growth retardation in women living in the South of the Kemerovo region and working under harmful labor conditions. A survey of 39 women of reproductive age living in the territory of Novokuznetsk was carried out, 20 of them worked at various enterprises of the city. The study group included 14 women who gave birth to children with intrauterine growth retardation of varying severity. The comparison group (control) consisted of 25 women. They did not have spontaneous miscarriages and they carried a child without the intrauterine growth retardation. The work investigated the frequency of occurrence of polymorphisms of genes of the xenobiotic biotransformation system - CYP1A2*1F, GSTM1 (they determine the activity of detoxification enzymes), as well as their combinations - in a group of working women and housewives who gave birth to children with intrauterine growth retardation. The forms of genes associated with the intrauterine fetal growth retardation, as well as genes associated with the resistance to this pathology, were identified. Combinations of gene forms of different phases of the xenobiotic biotransformation and their relationship with intrauterine fetal growth retardation were shown. There were no statistically reliable differences between various cohorts of women. A positive association of a high risk of the intrauterine fetal growth retardation in women with A/A CYP1A2*1F genotype and deletion polymorphism of the GSTM1 "-" gene has been shown. The heterozygous form of the C/A CYP1A2*1F gene polymorphism is statistically reliably associated with the resistance to this pathology, as well as the normally functioning GSTM1 "+" gene. Genotype A/A CYP1A2*1F in the combination with the deletion polymorphism of GSTM1 "-" gene is statistically reliably associated with intrauterine fetal growth retardation, and C/A CYP1A2*1F genotype in the combination with normally functioning GSTM1 "+" gene is associated with a low risk of the intrauterine fetal growth retardation. Comparative analysis of the relationship of the studied forms of genes of the xenobiotic biotransformation system with the intrauterine fetal growth retardation in the groups of female workers and housewives did not show statistically reliable differences.
Introduction.Th e aluminum industry belongs to the industry with a high status of occupational pathology. The study of metabolic bases and hygienic aspects of fl uorosis is a priority section of modern occupational health. Organ failure occurs in a separate group of workers, despite the equivalent conditions of production and may be due to biochemical polymorphism.The aimof the study was to explore the associative relationship of molecular genetic, biochemical markers with the nature of chronic fl uoride intoxication in workers of the aluminum industry.Materials and methods. Th e complex of clinical and genetic parameters of workers of Novokuznetsk aluminum plant with the determination of the content of harmful impurities in the air of the working areas was evaluated. Statistical analysis was carried out using IBM SPSS Statistics 22.Results. Over 25 years of observation, the maximum risk of intoxication was observed in the workplaces of electrolyzers, anodes against the background of metabolic disorders. Th e associative relationship of CYP, GST, SOD genes with the nature of fl uoride intoxication was determined.Conclusions.Th e development of fl uorosis is predetermined by the hereditary component. Markers associated with the dynamics of metabolic maladaptation allow to predict the course of the disease.
Introduction. According to epidemiological observations, the level of congenital malformations in children is associated with the degree of chemical pollution of the environment and certain forms of genes of the I and II phases of the xenobiotic biotransformation system. The study aimed to determine and compare the index of anthropogenic load with the probability of occurrence of congenital malformations of the fetus in combination with gene polymorphisms of I and II phases of the xenobiotic biotransformation system in women living in different administrative territories in the South of Kuzbass. Material and methods. The level of air pollution in the cities of the South of the Kemerovo region (Kuzbass) was established. Prenatal screening of 1,426 pregnant women at the term of 15-18 weeks in the cities of the South of Kuzbass was carried out. The Real Time-PCR method was used to determine the gene polymorphism of the xenobiotic biotransformation system (CYP1A2, GSTM1) in 53 women of Novokuznetsk who gave birth to newborns with congenital malformations. Results. In the cities of the South of Kuzbass, with a critical and high degree of pollution of atmospheric air and waterways, many women are at risk of congenital malformations in offsprings. The A/A CYP1A2*1F genotype in combination with the deletion polymorphism of the GSTM1 gene in the mother is reliably associated with the occurrence of congenital malformations in offsprings (χ2 - 4.72; р - 0.030; OR - 5.56; CI - 1.05-29.32), and the C/ACYP1A2*1F genotype in combination with the normal functioning GSTM1 “+” gene is associated with resistance to the development of congenital malformations (χ2 - 12.53; p - <0.001; OR - 0.11; CI - 0.03-0.4 ). Conclusion. Against the background of an increasingly unfavourable ecological situation in Kuzbass and raising the number of newborns with congenital malformations, it is essential to include in the algorithm for early prenatal diagnosis the determination of the forms of genes of different phases of the xenobiotic metabolism system to elaborate an algorithm for reducing the xenobiotic load on the body of pregnant women during critical periods of fetal organogenesis.
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