Relationship between functional disability in activities of daily living and ACE and AT2R1 gene polymorphisms in patients with different types of encephalopathies

Abstract

The aim of study was to analyse similar associations between functional disability in the activities of daily living and polymorphism of ACE and AT2R1 genes in the patients with different types of encephalopathies. Material and methods. The 96 patients with encephalopathies of various genesis who were under inpatient treatment were examined. The formation of groups of examined patients was based on the genesis of encephalopathy, in particular, the distribution by type of encephalopathies was as follows: chronic traumatic encephalopathy (CTE) – 26, chronic alcohol-induced encephalopathy (CAIE) – 26, vascular encephalopathy in chronic brain ischemia (CVE) – 18 and post-infectious encephalopathy (PIE) – 26. The control group consisted of 12 people, representative in terms of age and gender. We used the Barthel activities of daily living (ADL) index to assess patients' activities of daily living. The molecular genetic study of the polymorphic variant I/D of the ACE gene and A1166C of the AT2R1 gene was performed in accordance with the standard operating protocols developed in the molecular genetic laboratory of the SI “RCMD of Public Health Ministry of Ukraine. Results. Analyzing the distribution of patients with different types of encephalopathies according to the functional disability in ADL by the Barthel scale, a mild degree of dependence on someone’s assistance was found in 28.28% of patients with CTE, 19.31% of patients with CVE, 28.43% of patients with CAIE and 35, 94% of patients with PIE. A moderate degree of dependence was found in 11.72% of patients with CTE, 12.41% of patients with CVE, 15.69% of patients with CAIE, and 17.97% of patients with PIE. At the same time, statistically significant differences were found only between the groups of patients with CVE and PIE. Evaluating the dependence of functional disability in the activities of daily living according to the Barthel scale in patients with CVE on the polymorphism of the ACE and AT2R1 genes, probable associations were established regarding the distribution of the frequencies of genotypes and alleles of the polymorphic variant A1166C of the AT2R1 gene, in particular, the most significant proportion of individuals with moderate dependence are carriers of the C/C genotype ( 80.00%), which also corresponds to the allelic distribution (78.94% of people in need of someone’s help were identified among carriers of the C allele; p<0.05). Conclusions. Among different types of encephalopathies, functional disability in everyday life in patients with chronic vascular encephalopathy is associated with the A1166C polymorphic variant of the AT2R1 gene.