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Epilepsy is a common neurologic disorder characterized by intractable seizures, involving genetic factors. There is a need to develop reliable genetic markers to predict the risk of epilepsy and design effective therapies. Arsenite methyltransferase (AS3MT) catalyzes the biomethylation of arsenic and hence regulates arsenic metabolism.  AS3MT  variation has been linked to the progression of various diseases including schizophrenia and attention deficit or hyperactivity disorder. Whether genetic polymorphism of  AS3MT  contributes to epilepsy remains unclear. In this study, we investigated the association of  AS3MT  gene polymorphism with susceptibility to epilepsy in children from south China. We also explored the effect of  AS3MT  variation on the safety of antiepileptic drugs. Genotypic analysis for  AS3MT  rs7085104 was performed using samples from a Chinese cohort of 200 epileptic children and 244 healthy individuals. The results revealed a genetic association of  AS3MT  rs7085104 with susceptibility to pediatric epilepsy. Mutant homozygous GG genotype exhibited a lower susceptibility to childhood epilepsy than AA genotype. Carriers of  AS3MT  rs7085104 AA genotype exhibited a higher risk of digestive adverse drug reactions (dADRs) in children when treated with valproic acid (VPA) or oxcarbazepine (OXC). Additionally, bioinformatics analysis identified eight  AS3MT  target genes related to epilepsy and three  AS3MT -associated genes in VPA-related dADRs. The effects of AS3MT on epilepsy might involve multiple targets including  CNNM2 ,  CACNB2 ,  TRIM26 ,  MTHFR ,  GSTM1 ,  CYP17A1 ,  NT5C2 , and  YBX3 . This study reveals that  AS3MT  may be a new gene contributing to epileptogenesis. Hence, analysis of  AS3MT  polymorphisms will help to evaluate susceptibility to pediatric epilepsy and drug safety.

frontiers in neuroscience

AS3MT Polymorphism: A Risk Factor for Epilepsy Susceptibility and Adverse Drug Reactions to Valproic Acid and Oxcarbazepine Treatment in Children From South China