Ye.A. Lytvynets, N.T. Skoropad
The aim of the study was to evaluate the distribution of the variant alleles and genotypes of the polymorphic loci of the xenobiotics biotransformation system gene NAT2 in patients with urolithiasis (SKD) and to determine the nature of their polymorphism in the healthy population. 60 patients aged 20-65, with SKD who were treated in the urological department of the Ivano-Frankivsk central city hospital in 2016-2018 were examined. The control group comprised healthy individuals of the same age, selected by random sampling, living in different regions of Ivano-Frankivsk oblast (157 people).
The material for the study was a DNA isolated from leukocytes in the peripheral blood of patients. In subsequent phases of the study, amplification of DNA sequences in vitro was performed using the polymerase chain reaction method. The analysis of the frequency of NAT2 genotypes combinations in patients with SKD showed that homozygous mutant deletion of 481CC was more common in patients than in healthy subjects. Comparison of allelic frequencies and 481TC genotypes in patients revealed that the heteronucleases were 77.8% versus 41.0% in healthy subjects, with a significant difference (PN <0.05). Under such conditions, it can be assumed that the presence of a homozygous mutant deletion of the CC locus of the T481C and the GG of the A803G locus of the NAT2 gene, with high probability, suggests an adverse, recurrent CKD. The heterozygous version of the TC of the locus T481C determines partial control of the ailment. The heterozygous variant of the AG locus A803G determines the increased susceptibility to the disease, without clearly affecting its phenotypic variant.
In this case, the homozygous variant of the AA allele of the A803G locus, the homozygous TT, and the heterozygous TC deletion of the T481C allele are protectors for the development of SKD.