Affiliation:
1. National Medical Research Center for Children’s Hematology, Oncology and Immunology named after Dmitry Rogachev; West Kazakhstan Medical University named after Marat Ospanov
2. West Kazakhstan Medical University named after Marat Ospanov
3. National Medical Research Center for Children’s Hematology, Oncology and Immunology named after Dmitry Rogachev
Abstract
Introduction. The polymorphism of the vitamin D receptor (VDR) gene is associated with bronchial asthma (BA). Based on this, studies on the prevalence of VDR polymorphism in representatives of different races and peoples with AD and in healthy people are timely.Aims. To determine the TaqI polymorphism of the vitamin D receptor gene (TT, TS and CC) in children and adolescents with a verified diagnosis of AD on the example of the Kazakh population of Western Kazakhstan.Materials and methods. The study involved 54 Kazakh children with BA (Me age 12.8 years, fluctuations range 5–17 years). The control group consisted of residents of the same region without BA: Kazakhs – 66 children, Russians – 40 children. In each of these groups, children were born in the third generation of families without mixed marriages. The examination was performed by collecting venous blood with the informed consent of the legal representative of the child/adolescent. The samples were stored at a temperature of -80 ºC until the start of the analysis with further DNA sequencing and PCR at the INVITRO laboratory.Results. In Kazakh children without BA TT alleles were recorded in 57.6%, TC – in 34.8%, CC – in 7.6%. In Russian children without BA, the TT allele was found in 35.0%, TC – 55.0%, CC – 10%. In children of Kazakhs with BA, the TT allele was in 74.0% of cases, TC in 26.0%, and CC was absent. The first stage of the study with a limited number of observations did not allow obtaining a statistically significant difference between the individual indicated groups. However, taking into account the probable protective effect of the CC allele, the differences in the frequency of the TT alleles and in total TC and CC and CC and in total TT and TC turned out to be significant: 0.000 and 0.030, respectively. When studying the distribution of alleles within the groups, it turned out that for Kazakhs in the control group and, especially, in AD, a decrease in the frequencies of TC alleles and, most clearly, CC alleles is typical.Conclusion. The protective value of the CC allele cannot be ruled out. But it is not yet possible to formulate a final opinion on the functional significance of polymorphism. Further research will help to understand the relationship between the structural features of the VDR and BA.
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