Single nucleotide polymorphisms of aldehyde oxidase 1 gene in children with acute lymphoblastic leukemia living in the East Siberian Region
Abstract
Introduction. Interest in studying the enzyme aldehyde oxidase-1 is related not only pharmaceuticals, but also to the scientific role of certain polymorphisms of the hAOX1 gene in the development of diseases. Objective: to study the prevalence of polymorphisms in the aldehyde oxidase-1 gene in children with acute lymphoblastic leukemia and to search for possible associative links. Materials and methods. 82 children with acute lymphoblastic leukemia and 200 healthy volunteers with no history of hematological pathology were examined. During genotyping, an amplification method with a real-time fluorescence signal detection system at the endpoint was used to determine single-nucleotide polymorphisms. The material for the study was DNA samples isolated from buccal epithelium samples. Result. The occurrence of the polymorphic variant rs56199635 was predominant in both groups. There are no significant differences in the frequency of the rs55754655 polymorphism of the hAOX1 gene and its effect on the development of acute lymphoblastic leukemia. The A/A genotype proved to be predominant. An increased risk of leukemia was found in heterozygous carriers of hs3731722 by 4.7 times. In the control group, there was a very weak coupling between polymorphisms rs56199635 and rs3731722 due to their close localization to each other, and it did not affect the risks of developing leukemia in children. Conclusions. No associative relationship was found between single nucleotide polymorphisms rs56199635, rs55754655 of the hAOX1 gene and the development of acute leukemia in Caucasian children of the East Siberian region. For the first time, an association has been established between the carriage of the A/G rs3731722 hAOX1 gene and the development of acute lymphoblastic leukemia in children. The risk of developing acute lymphoblastic leukemia in heterozygous carriers of the A/G rs3731722 hAOX1 gene is 4.7 times higher than in the population of healthy volunteers.
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