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GENE POLYMORPHISM IN CHILDREN HAVING CARDIOVASCULAR DISEASES WHILE LIVING UNDER EXTREME ENVIRONMENTAL CONDITIONS OF THE EXTREME NORTH
Abstract
Introduction. The extreme nature of environmental meteorological factors and the asynchronous change of day and night are considered to be one of the reasons leading to a decrease in the life quality in the Extreme North. These might lead to a violation of adaptive mechanisms under certain conditions. The combination of variants of polymorphic candidate genes causes functional disorders of the cardiovascular system. The research aims at studying the genetic polymorphism in children having pathologies of the cardiovascular system and living under extreme environmental conditions of the Extreme North. Materials and methods. Two groups of children living in the Extreme North were examined. The observation group consisted of 49 children (23 boys, 26 girls) aged 6-12 years with the pathology of the cardiovascular system. The comparison group included 87 children (48 boys, 39 girls) aged 6-12 years without cardiovascular diseases. Typing of polymorphic loci of Estrogen receptor alpha (ESR1) gene (G2014A, rs2228480) and the human leukocyte antigen (HLA) system (C/T, rs3135388) was determined using instruments provided by Syntol (Russia). A real-time polymerase chain reaction (real-time PCR) was used on a CFX96TM instrument with allelic discrimination of fluorescence curves. The significance of the differences between the groups was considered significant at p<0.05. Results. While genotyping, it was found out that the occurrence of the minor allele A of the ESR1 gene (rs2228480) in children suffered from cardiovascular diseases amounts to 26%, which is 2.6 times higher than in the group without pathologies. The frequency of the variant T allele of the HLA-DRA gene (rs3135388) in the observation group is 29%, which exceeds the same indicators in the comparison group by 1.8 times (p<0.05). Conclusion. Thus, in children's population living in the Extreme North, a significant association with excess frequency of minor alleles of Estrogen receptor alpha (ESR1) gene (rs2228480) and the human leukocyte antigen (HLA) system (rs3135388) was found. The summation of extreme climatic factors and time asynchronism of the Extreme North creates conditions for the polymorphism of candidate genes responsible for the immunological tolerance and endocrine regulation of adaptation processes. It goes without saying that their violation increases the risk of cardiovascular diseases in early adolescence.
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