Introduction: Habitation and the process of adaptation of the population of northern regions to the harsh environment are associated with the development of such syndromes and conditions as polar tension, polar dyspnea, the polar metabolic type, premature aging, and north-related hypertension, and aimed at maintaining homeostasis constancy to ensure full life activity in extreme environmental conditions, it which issues of preserving human health and labor potential remain highly relevant. Objective: To review published data on physiological and genetic adaptation to adverse climate and environmental stressors and to establish informative genetic markers for assessing adaptabilities of northerners. Materials and methods: The review includes data of Russian and foreign studies published in Russian and English languages in 1980–2021 and cited in the Pubmed, NCBI, eLIBRARY.RU, Scopus, Web of Science, and RSCI databases. Of 330 articles found, 40 full-text materials were selected for this review based on the following criteria: availability of data on polymorphic variants of genes involved in the genetic adaptation of humans to extreme conditions of the north; availability of data on epidemiology of genes associated with multifactorial diseases most common in the circumpolar zone; availability of data on adverse health effects of environmental factors in northerners, and ethnic features of gene pools of indigenous people and newcomers of the circumpolar zone. Methods of information analysis were applied to summarize the results of studies reviewed. Results: A strategy for assessing the level of functional reorganization of the human organism in the North is proposed. The article also describes a panel of informative genetic markers selected for a comprehensive assessment of adaptability of northerners, including, inter alia, normal genetic variability of adapting people, with the purpose of creating region-oriented diagnostic maps allowing assessment of total risks of cold-related illnesses for timely correction of the lifestyle and taking preventive and therapeutic measures. Discussion: In the genetic and epidemiological study of human populations living in extreme environments, it is expedient to use a comprehensive approach that includes personalized, preventive and predictive assessment of medical, psycho-physiological and genetic determinants of the functional state matrix, reflecting the current level of adaptation of northerners.
Arterial hypertension (AH) is one of the most serious problems of modern health care. In the northern regions it has become a catastrophe, being the most common cause of early disability and mortality among the employable newly-arrived population. At high latitudes, AH is characterized by a more severe course; it is accompanied by early damage to target organs; and it is more often in young people. AH occurs as a result of a combined interaction of polymorphism in genes, which are involved in blood pressure regulation. It is also provoked by the environmental factors. The aim of the study is to assess the prevalence of polymorphisms in four AH candidate genes (AGT (rs4762), AGTR1 (rs5186), ADD1 (rs4961), NOS3 (rs2070744)) in the newly arrived population of the North-East Russia. Materials and methods. The cross-sectional study involved practically healthy unrelated men, mostly Europeans, living or born on the territory of the Magadan region (n=101). The average age of the subjects was 46.12±1.5 (20–77 years old). PCR was used to perform molecular genetic testing of genes directly involved in the work of the main blood pressure regulation systems: AGT, AGTR1, ADD1, NOS3. The author calculated phenotypic and gene frequencies, observed and expected heterozygosity levels, Wright's fixation index (D) and population genetic distance (according to Nei). Clustering methods and multidimensional scaling were used to visualize the genetic relationship of different populations. Results. In the newly arrived population of the North-East Russia, genotype distribution corresponds to the Hardy – Weinberg equilibrium (p>0.05). Allelic diversity for the studied loci varies from Ho=0.25 (AGT locus) to Ho=0.44 (eNOS locus). Conclusion. The result of the study is the revealed characteristics of AH candidate gene frequency in the newly arrived population of the North-East Russia. It is found that allelic variants that increase the risk of AH developing are minor. Their frequency varies from 13.37 % (AGT*T allele, AGT locus) to 35.64 % (eNOS*C allele, eNOS locus).
Introduction. The study on polymorphic variants of the gene of endothelial nitric oxide synthase is important for understanding the genetic basis of the respiration system readjustments, particularly at adaptation to the North conditions. Aim. This research explored the occurrence of -786 T>S (rs2070744) polymorphism in the NOS3 gene and its correlations with indicators of the lung function in northern residents. Materials and methods. One hundred and twentyfive male volunteers, Caucasian by ethnicity of the Magadan Region, participated in continuous cross-sectional study. The mean age of the subjects was 41.4±1.3 yrs. The examinees underwent SNP testing of the -786 T>S (rs2070744) polymorphism of the NOS3 gene by polymerase chain reaction. Lung function flow-volume indicators was assessed using a spiroanalyzer KM-AR-01 Diamant-S (Russia), and a series of heart rate variability indicators were analyzed with the Varicard complex. Results. In the surveyed selection of northerners, the distribution of frequencies of alleles and genotypes of the NOS3 locus corresponded to the Hardy-Weinberg equilibrium law (χ2 =0.13; p=0.714). The NOS3 allele*T frequency was 64.57%, the NOS3*C allele concentration was 35.43%. The following genotype picture was observed in the examined male Northerners: -786 TT – 41.96%, -786 TC – 45.76%, and -786 CC – 12.28%. The analysis of the lung function revealed the worst impairments in volume-velocity variables (MEF25-75 84±1,2%) which were characteristic of those northern men (a group of subjects with the TT genotype) who did not have -786T >C (rs2070744) polymorphism of the NOS3 gene in their genotype as compared to the minor allele carriers (TT+CC genotype – MEF25-75 94±2,1%). In addition, heart rate variability indicators showed the parasympathetic link of the autonomic nervous system that prevailed in the same group. Conclusion. The studies allowed for the finding of reduced values of volume-velocity indices of the lung function in those male subjects whose genotype had no NOS3 allele*C (TT homozygotes). The findings were observed along with the prevailing parasympathetic link in the heart rate regulation, which may indicate compensatory adaptive mechanisms aimed at optimizing the lung function when adapting to the extreme climatic factors of the North. Therefore, we can assume that the TT genotype appears to be a selective advantage at adaptation to the cold. Following on from this, the TT genotype Northerners can be considered to be the most adapted for living in the conditions of the North.
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