Distribution of genetic markers at workers of aluminum industry with professional fluorosis: serum proteins and erythrocyte isoenzymes

The aim of this work was the study of the association of biochemical markers of genes with the risk of the development of professional and work-related fluorosis in people, working in the aluminum industry. From 303 to 387 employees of Novokuznetsk aluminum factory were examined for various polymorphic genetic systems. The main group consisted of patients with fluorosis who were tested in the clinic of Research Institute of Complex Problems of Hygiene and Occupational Diseases RAMS. The control group (110 people) consisted of apparently healthy individuals of the same professions, working on Novokuznetsk aluminum factory, but without a diagnosis of occupational disease. We studied the serum proteins haptoglobin (HP), group-specific component GC, erythrocyte acid phosphatase ACP, fluorescent esterase EsD, protease inhibitor a-1-antitrypsin AAT. The material for the study was the venous blood samples. The study was conducted with the use of electrophoresis in polyacrylamide and the starch gels followed by histochemical staining electrophoregrams. Variants of protease inhibitor a-1-antitrypsin (AAT) were separated by isoelectric focusing in polyacrylamide gel. For analyzing the association studies of gene markers of the risk of develop ment (or resistance to the development) of fluorosis the criteria χ2 and OR were used. It was revealed that variants AcP aa, AcP bb, AcP bc, EsD 2-2, PI M3M3 and GC, combinations (1-1) + PI (MR), GC (11) + PI (M3M3), PI ( MR) + EsD (2-2), GC (1-1) + PI (M2M3), EsD (2-2) + AcP aa, GC (1-1) + EsD (2-2) referred to the risk genotypes of development of fluorosis. Two-component combinations of genotypes that were also associated with an increased risk of development of professional fluorosis were identified: GC (1-1) + PI (MR), GC (1-1) + PI (M3M3), PI (MR) + EsD (2-2 ); GC (1-1) + PI (M2M3), EsD (2-2) + AcP aa; GC (1-1) + EsD (2-2). For three-way combinations of genotypes are GC (1-1) + PI (MR) + AcP AA and GC (1-1) + EsD (2-2) + AcP cc. Genotypes resistant variants are: PI M1M1, EsD 1-1, AcP ab, AcP ac

POLYMORPHISM OF GSTM1 AND GSTT1 GENES IN WORKERS OF FERROUS METALLURGY WITH PROFESSIONAL FLUOROSIS

The aim of the present work was to study genetic risk factors for the development of professional fluorosis in workers of Novokuznetsk aluminum factory, the presence of which is associated with the risk of professional dental fluorosis and resistance to it. The study involved 79 male workers of Novokuznetsk aluminum factory Ltd. "RUSAL" of 35-60 years. The control group (212 people) consisted of healthy individuals working for the same company and without fluorosis. The material for the study were the venous blood samples. Polymorphism of null-alleles of genes encoding transferase phase 2 biotransformation of xenobiotics - GSTT1 and GSTM1 was studied. In this study DNA was isolated by phenolhloroformnym method performing polymerase chain reaction amplification products electrophoresed on agarose gel, and the products were visualized under ultraviolet light. The frequencies of alleles and genotypes in groups of patients and healthy subjects were compared using the χ2 test with Yates correction for continuity. The association of different genotypes (or combinations thereof) was estimated by the magnitude of the disease odds ratio (OR). The frequencies of alleles and phenotypes in our sample were studied on an aluminum factory workers and were already comparable to previously published data on Russian Federation and Siberian federal district. Analysis of differences in genotype frequencies between patients with fluorosis and those of the control group using χ2 criteria and OR shows that the largest contribution to the risk of developing the disease is making by null-allele of the GSTT1 gene (GSTT1(-)), as well as the "double zero" - a combination of GSTT1(-) and GSTM1(-). On the other hand the holders GSTT1(+)) as well as combinations of genotypes GSTT1(+) / GSTM1(-) are the most resistant to this disease genotype. The obtained data can be used in the formation of risk groups for development of fluorosis, for timely diagnosis and prevention of loss of workers' health

Analysis of eight polymorphic Alu elements in the teleuts population

Allele frequencies and genetic diversity in the population of Teleuts were assessed by the Alu repeat polymorphism at eight autosomal loci (ACE, APOA1, PLAT, F13, PV92, A25, CD4, D1). For comparison, the study included previously obtained data on the Alu polymorphism in 19 indigenous populations of Siberia. On the dendrogram of genetic distances, the Teleut population is located in the cluster of Siberian ethnic groups, which are similar in origin, geography, and cultural traditions

Study of biochemical markers in newborns with necrotizing enterocolitis

Aim. To study the level of biochemical markers to optimize the diagnosis and prognosis of necrotizing enterocolitis in newborns. Methods. 110 newborns with necrotizing enterocolitis were observed in the intensive care unit at the age of 1 to 28 days. According to the stages of necrotizing enterocolitis, all examined newborns were divided into three groups. Group 1 consisted of 49 newborns (40.5%) with necrotizing enterocolitis stage I, group 2 included 48 newborns (39.7%) with necrotizing enterocolitis stage II and group 3 included 13 newborns (10.7%) with necrotizing enterocolitis stage III. In 40 newborns with necrotizing enterocolitis, matrix metalloproteinase-2, -9, -17, cathelicidin, transferrin in the blood and fecal calprotectin in the feces were measured by ELISA. Results. Comparative analysis demonstrated that matrix metalloproteinase-2 was increased in newborns from group 1 by 6.9 times, in group 2 - by 8.3 times and in group 3 - by 10.7 times. Similarly, the level of metalloproteinase-9 was increased in group 1 by 3 times, in group 2 by 3.4 times, and in group 3 by 4.5 times compared to the newborns from the control group. The concentration of metalloproteinase-17 in newborns from groups 1 and 2 was almost the same and increased on average by 2.5 times, and by 3.6 times in group 3 compared to the control. In examined newborns, the highest level of cathelicidin and lowest level of transferrin were observed in necrotizing enterocolitis stage III, which indicates the more severe course of the disease and may be a predictor of changes in treatment tactics. So, taking into account the diagnostic value of fecal calprotectin (75%), it can be used as a noninvasive marker of inflammation in the intestine. Conclusion. The established changes in the level of biochemical markers (metalloproteinases, cathelicidin and transferrin in the blood and fecal calprotectin in feces) have diagnostic and prognostic value in the diagnosis, prediction of outcomes and optimization of treatment tactics of necrotizing enterocolitis in neonatal practice

DISTRIBUTION OF BIOCHEMICAL AND MOLECULAR-GENETIC MARKERS OF GENES IN WORKERS OF COAL MINING ENTERPRISES OF KUZBASS REGION SUFFERING FROM CHRONIC DUST BRONCHITIS

Distribution of genotypes of biochemical markers of HP, GC, EsD, АсР genes, genotypes on polymorphic variants of the genes coding enzymes of biotransformation GSTT1 (GST-ɵ1) and GSTM1 (GST-μ1) and NOS3 (VNTR4 polymorphism) in the miners with chronic mechanic bronchitis, and in persons without this occupational pathology is investigated. It is shown that the owners of EsD 1-2, АсР bb genotypes are most subject to development of chronic mechanic bronchitis. Endogen factors of resistance to this disease are GC 1-1, EsD 1-1, АсР bc genotypes

CARDIOVASCULAR DISEASES AND VITAL EXHAUSTION: LONGITUDINAL STUDY IN RUSSIA/SIBERIA (WHO MONICA — PSYCHOSOCIAL PROGRAM)

Aim. To study prevalence rates of vital exhaustion and its effects on 14-year risk of cardiovascular disease (CVD) (arterial hypertension (AH), myocardial infarction (MI), and stroke) development and genetic traits in open population of 25–64-yearold men in Russia/Siberia (West Siberia metropolis, Novosibirsk).Material and methods. Random representative sample of 25–64-year-old men was studied in a framework of WHO MONICA-Psychosocial Program (MOPSY) in 1994. Maastricht Questionnaire (MQ) was used to assess vital exhaustion. Genotyping for variable number of tandem repeats (VNTR) polymorphisms in DRD4 and DAT genes was performed. All new cases of AH, MI, and stroke were registered among people without CVD for 14 years (from 1994 to 2008). Statistical analysis was done by using software package SPSS 11.5. Cox proportional hazards regression model was used for evaluation of risk coefficient (hazard ratio (HR) taking into account time-adjusted control. Х2 test was used to assess statistical significance of differences between the groups.Results. In the study population, the vital exhaustion rate was 66,8%. Hazard ration was significantly increased (AH: HR=3,2; MI: HR=2,7; stroke: HR=3,2) in men with vital exhaustion compared with vital exhaustion-free individuals in open population during the first five years of observation. Multifactorial modeling showed that vital exhaustion together with concomitant social gradient determined development of AH, MI, and stroke in open population of 25–64-year-old men. Allele 7 of DRD4 and genotype 9/9 of DAT gene were associated with high level of vital exhaustion.Conclusion: Open population of 25–64-year-old men (Russia/Siberia, Novosibirsk) showed high level of vital exhaustion, a predictor for risk of developing CVD. Vital exhaustion is significantly associated with certain VNTR polymorphisms of DRD4 and DAT gens