期刊
EPILEPSIA OPEN
卷 8, 期 2, 页码 509-516出版社
WILEY
DOI: 10.1002/epi4.12727
关键词
autoimmune; epilepsy; gene; seizure
This study aimed to explore the underlying pathomechanisms of the comorbidity between three common systemic autoimmune disorders (IDDM, SLE, and RA) and TLE using bioinformatics tools. The results revealed shared genetic variations between TLE and the three autoimmune disorders. These shared genetic variations may provide insights for targeted therapies for TLE patients with comorbid autoimmune disorders.
ObjectiveWe aimed to explore the underlying pathomechanisms of the comorbidity between three common systemic autoimmune disorders (SADs) [i.e., insulin-dependent diabetes mellitus (IDDM), systemic lupus erythematosus (SLE), and rheumatoid arthritis (RA)] and temporal lobe epilepsy (TLE), using bioinformatics tools. We hypothesized that there are shared genetic variations among these four conditions. MethodsDifferent databases (DisGeNET, Harmonizome, and Enrichr) were searched to find TLE-associated genes with variants; their single nucleotide polymorphisms (SNPs) were gathered from the literature. We also did a separate literature search using PubMed with the following keywords for original articles: TLE or Temporal lobe epilepsy AND genetic variation, single nucleotide polymorphism, SNP, or genetic polymorphism. In the next step, the SNPs associated with TLE were searched in the LitVar database to find the shared gene variations with RA, SLE, and IDDM. ResultsNinety unique SNPs were identified to be associated with TLE. LitVar search identified two SNPs that were shared between TLE and all three SADs (i.e., IDDM, SLE, and RA). The first SNP was rs16944 on the Interleukin-1 beta (IL-1 beta) gene. The second genetic variation was epsilon 4 variation of apolipoprotein E (APOE) gene. SignificanceThe shared genetic variations (i.e., rs16944 on the IL-1 beta gene and epsilon 4 variation of the APOE gene) may explain the underlying pathomechanisms of the comorbidity between three common SADs (i.e., IDDM, SLE, and RA) and TLE. Exploring such shared genetic variations may help find targeted therapies for patients with TLE, especially those with drug-resistant seizures who also have comorbid SADs.
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