PREVALENCE OF PON1-108C/T GENE POLYMORPHISM IN PATIENTS WITH DIFFERENT TYPES OF ENCEPHALOPATHIES
DOI:
https://doi.org/10.11603/mcch.2410-681X.2023.i2.13979Keywords:
gene polymorphism, PON1, post-traumatic encephalopathy, alcoholic encephalopathy, post-infectious encephalopathy, vascular encephalopathyAbstract
Introduction. Paraoxonase enzymes, and PON1 in particular, can play a protective role in a number of neurovascular and neurodegenerative diseases. The role of these enzymes in the pathogenesis of encephalopathies of various genesis is currently incompletely understood. However, this problem is highly relevant because, from the standpoint of modern neuroscience, PON1 can serve as a potential biomarker for determining the severity and prognosis of the course of a neurological disease in subjects with different genotypes.
The aim of the study – was to study the prevalence of the PON1-108c/t gene polymorphism in patients with various types of encephalopathies.
Research Methods. For 96 patients with encephalopathies of various genesis (post-traumatic, post-infectious, alcoholic and vascular) and a control group (CG, 12 people), a molecular genetic study of the polymorphic variant -108C/T of the PON1 gene was applied. First, DNA was isolated from whole peripheral blood, molecular genetic differentiation of the studied gene variants was carried out, followed by electrophoretic distribution. Statistical processing of the results was carried out using STATISTICA 10.0.
Results and Discussion. It was established that the frequency of the genotype responsible for the C/T polymorphism of the PON1 gene, both in patients with various types of encephalopathies and in CG individuals, did not deviate significantly from the Hardy-Weinberg equilibrium (p>0.05). According to the data on the frequency distribution of the genotypes of the -108C/T polymorphic variant of the PON1 gene in patients with PTE, VE, AE and PIE compared to individuals with CG, statistically significant differences were established only in patients with VE (5.56 % vs. 41.67 % – C/C carriers genotype and 44.44 % versus 8.33 % – carriers of the T/T genotype. At the same time, in the group of patients with VE, the distribution of PON1 gene genotype frequencies probably differed from the data of patients with PTE and PIE (χ2=20.36; p=0.009) Comparing the frequency distribution of alleles of the -108C/T polymorphism of the PON1 gene among patients with PTE, VE, AE and PIE relative to the data of CG, probable discrepancies were established not only in the CE group (the frequency of the C allele is 30.56 % versus 66.67 %; the frequency of the allele T – 69.44 % versus 33.33 %), but also in the AE group (C allele frequency – 38.46 % versus 66.67 %; T allele frequency – 61.54 % versus 33.33 %). Analyzing the ratio chances and its confidence interval for alleles of the PON1 gene in patients with PTE, VE, AE and PIE established the presence of a statistically significant relationship between the carrier of C and T alleles and the occurrence of encephalopathy only in patients with VE and AE. Analyzing the odds ratio and its confidence interval for the genotypes of polymorphic variants -108C/T of the PON1 gene in patients with PTE, VE, AE and PIE, it was established that the C/C genotype has protective properties with respect to the risk of encephalopathy both in patients with VE and in patients with AE.
Conclusions. The presence of the T allele of the -108C/T polymorphic variant of the PON1 gene increases the risk of occurrence and progression of encephalopathy in patients with VE by 4.55 times (95 % CI (1.50–13.74) and in patients with AE by 3.2 times (95 % CI (1.16–8.84). The protective properties of both the C allele and the C/C genotype of the -108C/T polymorphic variant of the PON1 gene with respect to the risk of occurrence and progression of encephalopathy in patients with VE and AE have been established.
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