Background: Currently coal mining employs over 7 million miners globally. This occupational setting is associated with exposure to dust particles, heavy metals, polycyclic aromatic hydrocarbons and radioactive radon, significantly increasing the risk of lung cancer (LC). The susceptibility for LC is modified by genetic variations in xenobiotic detoxification and DNA repair capacity. The aim of this study was to investigate the association between GSTM1 (deletion), APEX1 (rs1130409), XPD (rs13181) and NBS1 (rs1805794) gene polymorphisms and LC risk in patients who worked in coal mines. Methods: The study included 639 residents of the coal region of Western Siberia (Kemerovo region, Russia): 395 underground miners and 244 healthy men who do not work in industrial enterprises. Genotyping was performed using real-time and allele-specific PCR. Results: The results show that polymorphisms of APEX1 (recessive model: OR_adj = 1.87; CI 95%: 1.01–3.48) and XPD (log additive model: OR_adj = 2.25; CI 95%: 1.59–3.19) genes were associated with increased LC risk. GSTM1 large deletion l was linked with decreased risk of LC formation (OR_adj = 0.59, CI 95%: 0.36–0.98). The multifactor dimensionality reduction method for 3-loci model of gene–gene interactions showed that the GSTM1 (large deletion)—APEX1 (rs1130409)—XPD (rs13181) model was related with a risk of LC development. Conclusions: The results of this study highlight an association between gene polymorphism combinations and LC risks in coal mine workers.

The 23 polymorphic variants in genes encoding the enzymes of xenobiotics biotransformation ( CYP1 A1 ( rs4646903), CYP1 A2 ( rs762551), GS TP1 (rs1138272, rs1695), GS TM1 ( del), and GS T T1 ( del)),

We analyzed the polymorphic loci in the genes of the antioxidant system enzymes, such as GSTP1 (313A>G and 341C>T), MnSOD (47С>Т), GPx1 (599C>T), and CAT (–262C>>T), among 497 residents of Kemerovo oblast (Western Siberia, Russia). The analysis of the single-locus effects demonstrated a significant protective effect of the major C allele in the GPx1 (599C>T) locus. The MDR analysis of the gene-gene interactions showed that the GPx1 and the CAT genes work in close cooperation and mutually reinforce the risk of development of squamous cell lung cancer among the inhabitants of the industrial region.

Обеспеченность витамином D работников угольных шахт в зависимости от носительства полиморфных вариантов генов VDR и GC

Introduction. The prevalence of obesity is becoming more relevant every year. Individuals with increased body weight show alterations in various biochemical parameters including lipid profile. One of the genes involved in the regulation of lipid metabolism is the APOE gene. The aim of the work. To study the influence of ApoE gene on biochemistry parameters and BMI level in coal mine workers. Materials and Methods. Data of one hundred thirty four coal mine workers were included. Venous blood was collected from all participants for DNA and serum isolation. Further genotyping was carried out for two polymorphic variants of ApoE gene (rs7412 and rs429358). Along with this, blood biochemical parameters were evaluated. Results. While studying the effect of two polymorphic variants on BMI in subjects, a significant association was noted among carriers of E2/E3 and E3/E3 genotypes. Among biochemical indices, had an effect on cholesterol, folic acid, homocysteine, total calcium, low density lipoproteins, alkaline phosphatase, γ-glutamyltransferase, and fibrinogen. Limitations. The results obtained characterize the situation at a specific production site (coal mine) in a particular region (Russia, Western Siberia). In the future, the reproducibility of the results of our study will be tested on other, larger samples with a wide range of genetic variants related to lipid metabolism and eating behaviour. Conclusion. The results obtained in this study may be useful for further work in the formation of certain risk groups and preventive measures.