The ABCB1, ABCC2 and RALBP1 polymorphisms are associated with carbamazepine response in epileptic patient: a systematic review

Acta Neurol Belg. 2022 Aug;122(4):871-880. doi: 10.1007/s13760-022-01920-5. Epub 2022 Mar 24.

Abstract

Despite a dramatic increase in treatment options over the past 30 years, Carbamazepine (CBZ) is still considered the standard of care and the most prescribed initial treatment for focal epilepsy. Hence, the identification of genetic biomarkers that influence the response, resistance and toxicity to CBZ remains a challenge. Several research studies have looked into this to highlight the polymorphisms responsible for the variability in the response to CBZ in patients with epilepsy. The aim of this review is to compare the different results published in the literature The systematic review included thirty-nine studies (2005-2021), Meta-analyses were performed on more than twelve polymorphisms in three genes (ABCB1, ABCC2, RALBP1) involved in CBZ cell transport. The current challenges are to identify other new biomarkers of antiepileptic drugs that can only materialize with large-scale collaborative research efforts.

Keywords: Carbamazepine; Epilepsy; Pharmacogenetic; Polymorphism.

Publication types

  • Review
  • Systematic Review

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B* / genetics
  • ATP-Binding Cassette Transporters* / therapeutic use
  • Anticonvulsants / therapeutic use
  • Carbamazepine* / therapeutic use
  • Epilepsies, Partial* / drug therapy
  • Epilepsies, Partial* / genetics
  • Epilepsy* / drug therapy
  • Epilepsy* / genetics
  • GTPase-Activating Proteins
  • Humans
  • Multidrug Resistance-Associated Protein 2* / genetics

Substances

  • ABCB1 protein, human
  • ABCC2 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • ATP-Binding Cassette Transporters
  • Anticonvulsants
  • GTPase-Activating Proteins
  • Multidrug Resistance-Associated Protein 2
  • RALBP1 protein, human
  • Carbamazepine