Immunogenetic Predisposing Factors for Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis

AbstractPurpose: Neuroinflammation appears as an important epileptogenic mechanism. Experimental and clinical studies have demonstrated an upregulation of pro-inflammatory cytokines such as IL-1β and TNF-α, in Mesial Temporal Lobe Epilepsy with Hippocampal Sclerosis (MTLE-HS). Expression of these cytokines can be modulated by polymorphisms such as rs16944 and rs1800629, respectively, both of which have been associated with Febrile Seizures (FS) and MTLE-HS development. The Human Leukocyte Antigen (HLA) system has also been implicated in diverse epileptic entities suggesting a variable role of this system in epilepsy. Our aim was to analyse the association between immunogenetic factors and MTLE-HS development. For that rs16944 (-511 T>C, IL-1β), rs1800629 (-308 G>A, TNF-α) polymorphisms and HLA-DRB1 locus were genotyped in a Portuguese Population.Methods: We studied 196 MTLE-HS patients (108 females, 88 males, 44.7 ±12.0 years, age of onset = 13.6 ± 10.3 years, 104 with FS antecedents) and 282 healthy cont...