Неврология, нейропсихиатрия, психосоматика (Sep 2020)

Association of carriers of single nucleotide polymorphisms rs1143634 and rs16944 in gene Il-1B and rs6265 in gene BDNF with temporal lobe epilepsy

  • Y. S. Panina,
  • D. V. Dmitrenko,
  • N. A. Shnayder,
  • E. V. Egorova,
  • A. A. Usoltseva

Journal volume & issue
Vol. 0, no. 0

Abstract

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Temporal lobe epilepsy (TLE) is one of the most common and refractory forms of epilepsy, with a different etiology. According to experimental and clinical studies, the transformation of the normal pattern of brain neuron activity into paroxysmal is accompanied by changes in the expression of cytokines and neurotrophins in the hippocampus and temporal cortex. Modulation of the expression of the brainderived neurotrophic factor (BDNF) may be associated with the carriage of the single nucleotide polymorphism (SNP) rs6265 in BDNF gene. Research groups have shown increased expression of BDNF in the hippocampus and temporal cortex in patients with pharmacoresistant epilepsy. Independent studies have demonstrated the role of the Il-1B gene encoding the proinflammatory cytokine IL1B in the development of inflammatory reactions and structural mediobasal TLE with hippocampal sclerosis.Objective: to study the association of the carrier SNPs rs16944, rs1143634 of IL-1B gene and rs6265 of BDNF gene in the development of TLE.Patients and methods: using RT-PCR, we identified carriers of SNPs rs1143634 and rs16944 in Il-1B gene and rs6265 in BDNF gene, from samples of 84 patients with TLE and 203 Caucasian healthy volunteers in the Siberian Federal District.Results: we have shown that the carriage of a high-producing allele C (OR = 2.01; 95% CI: 1.31-3.08; p = 0.001) and the homozygous genotype CC (OR = 2.48; 95% CI: 1.47-4.17; p = 0.001) SNPs in IL-1B gene (rs1143634) are statistically significantly associated with TLE in Siberian population. There were no statistically significant differences in the carriers of SNPs in IL-1B gene (rs1143634 and rs16944) and in BDNF gene (rs6265) with clinical and anamnestic features of TLE (p> 0.05). Association of carriers of SNPs rs6265 in BDNF gene with the development of TLE was not detected (χ2 = 0.3; p = 0.86).Conclusions: we detected association of carriers of the high-producing allele C and the homozygous genotype CC (rs1143634) in IL1B gene with temporal lobe epilepsy.

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