Analysis of distribution of IL13 and ADAM33 gene haplotypes in Russians, Khakass, Tuvans in relation to the risk of developing bronchial asthma

Bronchial asthma (BA) is a heterogeneous disease, the development of which is determined by a complex interaction of genetic factors and environmental factors. Despite significant progress in understanding the molecular mechanisms of the disease, population-specific genetic characteristics, especially in multi-ethnic regions of Russia, remain understudied. The relevance of this study is determined by the need to identify ethnicity-specific genetic markers to improve approaches for personalized prediction of the risk of developing BA and its severity. The aim of the work was to conduct a comparative analysis of haplotypic combinations in the IL13 (rs20541, rs1800925, rs1295686) and ADAM33 (rs2280090, rs2787094, rs44707) genes between ethnic groups to identify potential population-specific genetic markers at BA-associated loci. The study involved 524 adolescents aged 12 to 18 years from Krasnoyarsk, Kyzyl and Abakan with verified ethnicity (Slavs – 293, Tuvans – 158, Khakass – 73). DNA was isolated from saliva samples followed by genotyping of polymorphic loci of the IL13 (rs20541, rs1800925, rs1295686) and ADAM33 (rs2280090, rs2787094, rs44707) genes using real-time PCR. It was found that rare variants of IL13 polymorphisms were more common in Russians than in Tuvans and the Khakass. The ATC haplotype of IL13 is 2–3 times more common among the Khakass and Tuvans than in Russians. In the Russian population, the GAC haplotype of the ADAM33 gene, containing rare alleles of all the polymorphisms studied, is detected significantly more often. The data obtained emphasize the relevance of haplotype analysis and the importance of taking into account ethnogeographical features when assessing the genetic risks of BA.

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