Higher transcription alleles of the MAOA-uVNTR polymorphism are associated with higher seizure frequency in temporal lobe epilepsy

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Vincentiis, Silvia ^{[1, 2]} ; Alcantara, Juliana ^{[1, 2]} ; Rzezak, Patricia ^[2] ; Kerr, Daniel ^[2] ; dos Santos, Bernardo ^[3] ; Alessi, Ruda ^[1] ; van der Linden, Helio ^[4] ; Arruda, Francisco ^[4] ; Chaim-Avancini, Tiffany ^[2] ; Serpa, Mauricio ^[2] ; Busatto, Geraldo ^{[1, 2]} ; Gattaz, Wagner ^{[1, 2]} ; Demarque, Renata ^[1] ; Valente, Kette D. ^{[1, 2]}

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Hosp Clin HCFMUSP, Fac Med, Sao Paulo, SP - Brazil

^[2] Univ Sao Paulo, Fac Med FMUSP, Sao Paulo, SP - Brazil

^[3] Univ Sao Paulo, Escola Enfermagem EEUSP, Sao Paulo, SP - Brazil

^[4] Goiania Neurol Inst, Goiania, Go - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Epilepsy Research; v. 149, p. 26-29, JAN 2019.
• Citações Web of Science: 0

Resumo

Background: There is evidence of an imbalance in the neuromodulatory system mediated by serotonin (5-HT) in patients with drug-resistant temporal lobe epilepsy (TLE). This study analyzed the monoamine oxidase A promoter variable number of tandem repeats (MAOA-uVNTR) polymorphism in patients with temporal lobe epilepsy with hippocampal sclerosis (TLE-HS). Therefore, we assessed the association between this genetic variant and seizure predisposition and severity in patients with TLE-HS. Methods: One hundred nineteen patients with TLE-HS and 113 healthy volunteers were assessed. First, we genotyped all individuals for the MAOA-uVNTR genetic polymorphism. Second, we compared patients and controls and evaluated clinical variants of epilepsy. Results: There was no difference between the TLE-HS and control groups regarding genotypic and allelic distributions of MAOA-uVNTR polymorphism (p = 1.000). Higher transcription alleles of the MAOA-uVNTR were associated with higher seizure frequency (p = 0.032) and bilateral tonic-clonic seizures (p = 0.016). Conclusions: In a selected group of patients with TLE-HS, the polymorphism MAOA-uVNTR was associated with some aspects of epilepsy severity, namely seizure frequency and bilateral tonic-clonic seizures. (AU)

• Processo FAPESP: 13/11361-4 - Estudo de associação entre polimorfismos de genes da via serotoninérgica e epilepsia do lobo temporal causada por esclerose hipocampal
• Beneficiário: Kette Dualibi Ramos Valente
• Modalidade de apoio: Auxílio à Pesquisa - Regular