Variants of IL4 (rs2243250, rs2070874) and IL13 (rs1800925) genes in ethnic groups of Eastern Siberia

   The relevance of the study is due to the role of IL-4 and IL-13 cytokines in the pathogenesis of diseases of the respiratory system, including bronchial asthma.

   Changes in the IL4 and IL13 genes can affect their expression levels and, consequently, predisposition to asthma.

   The aim of the work was to analyze the prevalence of polymorphic variants of the IL4 rs2243250, rs2070874 and IL13 rs1800925 genes in populations of Russians, Khakas and Tuvans.

   Materials and methods. School students from Krasnoyarsk, Abakan, Kyzyl at the age of 12–18 years were studied, their nationality was verified by the nationality of both parents and was determined as Russians (n = 293), Khakas (n = 73), Tuvans (n = 158). Polymorphisms rs2243250 IL4, rs2070874 IL4, and rs1800925 IL13 were determined using real-time PCR.

   Results and discussion. It was shown that the CC genotype of the rs2243250 IL4 is more common in Russians (57.7 %) compared with Khakas (34.3 %) and Tuvans (17.1 %) (p < 0.05), allele T – in Tuvans (56.6 %) compared to European (16.8 %) and South Asian populations (18.4 %) (p < 0.05). The Russian population has a predominance of the CC rs2070874 IL4 (54.3 %) compared with other studied groups. The frequency of the allele T is higher among Tuvans (54.7 %) than in Russians (26.8 %), Khakas (41.1 %), European (16.8 %) and South Asian populations (18.6 %), but less than in East Asian populations (77.9 %) (p < 0.05). The CC rs1800925 IL13 is significantly more common in Tuvan (81.6 %) compared with Russians (55.0 %) and Khakas (67.1 %) (p < 0.05). Among Tuvans (81.6 %), this genotype also prevails over East Asian (66.3 %) and South Asian (63.8 %) populations, p < 0,05. Allele T is significantly less common in Tuvans (10.1 %) than in European (17.8 %), East Asian (17.8 %) and South Asian (20.0 %) populations (p < 0.05).

   Conclusions. Rare alleles of the polymorphisms rs2243250 and rs2070874 IL4, associated with the development of bronchial asthma, are more common among Khakas and Tuvans compared with Russians. Genotype TT of the rs1800925 IL13, associated with bronchial hypersensitivity and increased total IgE level, is more common among Russians compared with Tuvans.

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