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Association between SCN1A polymorphism rs3812718 and valproic acid resistance in epilepsy children: a case-control

Zhi Jian Wang1, Jie Chen2, Hai Liang Chen1

  • 1Department of Neurology, Fuzhou Neuropsychiatry Hospital, Fujian 350008, China.

Bioscience Reports
|November 11, 2018
PubMed

Insights

Valproic acid (VPA) resistance in children is a growing concern. The TT genotype of the SCN1A rs3812718 polymorphism increases the risk of VPA resistance, while the recessive model may decrease it.

Area of Science:

  • Genetics
  • Pharmacogenomics
  • Epilepsy Research

Background:

  • Valproic acid (VPA) is a primary antiepileptic drug (AED) with increasing resistance rates, especially in pediatric epilepsy.
  • Genetic factors, particularly single nucleotide polymorphisms (SNPs), are implicated in VPA resistance.
  • The SCN1A gene, encoding a voltage-gated sodium channel, is a potential candidate for influencing drug response.

Purpose of the Study:

  • To investigate the association between the SCN1A polymorphism rs3812718 and valproic acid (VPA) resistance in children with epilepsy.
  • To determine if specific genotypes of rs3812718 confer a higher risk of VPA resistance.
  • To conduct a meta-analysis to strengthen the findings on voltage-gated sodium channel gene polymorphisms and drug resistance.

Main Methods:

  • A cohort of 231 children with epilepsy, treated solely with VPA, was studied.
  • DNA was extracted from blood samples and genotyped using the Mass Array method for the SCN1A rs3812718 polymorphism.
  • A meta-analysis was performed, combining data from this study with existing literature on drug-responsive and resistant epilepsy patients exposed to voltage-gated sodium channels.

Main Results:

  • The TT genotype of the SCN1A rs3812718 polymorphism was significantly associated with an increased risk of VPA resistance (OR = 2.636, P = 0.033).
  • This association remained significant after adjusting for risk factors (OR = 2.861, P = 0.025).
  • The recessive genetic model for this polymorphism was linked to a decreased risk of VPA resistance after risk factor adjustment (OR = 0.402, P = 0.042).
  • Meta-analysis of nine studies corroborated these findings, indicating a consistent association.

Conclusions:

  • The rs3812718 TT genotype is a significant risk factor for developing valproic acid resistance in children with epilepsy.
  • The recessive genetic model of the SCN1A rs3812718 polymorphism may offer a protective effect against VPA resistance.
  • These findings highlight the role of SCN1A genetic variations in VPA treatment outcomes and suggest potential for personalized epilepsy management.

Keywords:
Drug resistantEpilepsyMeta-analysisSCN1ASingle Nucleotide PolymorphismValproic acid

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