Study of the role of carriage of single nucleotide variants of the IL-1β, TNFA, BDNF, NTRK-2 genes in the development and clinical features of temporal lobe epilepsy

Abstract

Temporal lobe epilepsy (TE) is the most common form of focal epilepsy in adults with a high rate of drug-resistant course. In the Russian Federation studies of the contribution of the carriage of single nucleotide variants of genes (SNGs) encoding proteins of neuroinflammation and neurodegeneration to the development of TE have not been previously carried out.Objective: to study the association of SNGs rs16944 and rs1143634 of the IL-1β gene, rs1800629 of the TNFA gene, rs6265 of the BDNF gene, rs3780645 of the NTRK-2 gene with the risk of development, clinical and neuroimaging features of TE.Patients and methods. The study included 166 patients with TE and 203 healthy volunteers living in the Siberian Federal District. The study included clinical, neurophysiological, neuroradiological, and laboratory work-up. Investigation of the carriage of SNGs rs16944 (-511T/C) and rs1143634 (+3954C/T) of the IL-1β gene, rs1800629 (G-308A) of the TNFA gene, rs6265 (G/A) of the BDNF gene, rs3780645 (C/T) and rs2289656 (C/T) of the NTRK-2 gene was carried out by real-time polymerase chain reaction. Results and discussion. The prognostically unfavorable role of carriage of the A allele and the GA rs1800629 genotype of the TNFA gene in the development of TE, the GA rs6265 genotype of the BDNF gene in the development of TE with hippocampal sclerosis was established. Carrying the genotype AA rs1800629 of the TNFA gene in patients with TE reduces the risk of polytherapy with antiepileptic drugs.Conclusion. The study of neuroinflammation and neurodegeneration processes is important both from a physiological point of view and from the point of view of searching for the TE development markers, which make it possible to predict and evaluate the rate of disease progression, help to determine the tactics of treatment, and evaluate its effectiveness. In this regard, at present, the identification of potential genetic markers remains a task of high priority.