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UGT1A6 and UGT2B7 Gene Polymorphism and its Effect in Pediatric Epileptic Patients on Sodium Valproate Monotherapy

P B Nandith1, Usha Adiga2, Vijaya Shenoy2

  • 1Research Scholar, K S Hegde Medical Academy, Nitte (Deemed to be University), Derlakatte, Mangalore, Karnataka, India.

Indian Journal of Pediatrics
|January 5, 2021
PubMed

Insights

This study examined uridine 5'-diphospho-glucuronosyltransferase (UGT) gene variations in pediatric epilepsy patients. Despite observed UGT1A6 and UGT2B7 gene polymorphism patterns, no significant impact on sodium valproate concentration was found.

Area of Science:

  • Pharmacogenomics
  • Clinical Pharmacology
  • Pediatric Neurology

Background:

  • Epilepsy is a common neurological disorder in children.
  • Sodium valproate is a widely used antiepileptic drug.
  • Genetic variations in drug-metabolizing enzymes, like UGTs, can influence drug efficacy and safety.

Purpose of the Study:

  • To investigate the patterns of UGT1A6 and UGT2B7 gene polymorphism in pediatric epileptic patients.
  • To compare serum sodium valproate concentrations across different UGT gene polymorphism patterns.

Main Methods:

  • Cross-sectional study of 99 pediatric epileptic patients (aged 2-18 years) on sodium valproate monotherapy.
  • Genetic polymorphism analysis using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).
  • Serum sodium valproate concentration measured by high-performance liquid chromatography (HPLC).

Main Results:

  • Predominant mutant allele patterns were identified in UGT1A6 (T19G, A541G, A552C) and UGT2B7 (A268G, C161T).
  • The UGT2B7 (G211T) polymorphism showed a predominant wild-type pattern.
  • No statistically significant difference in mean steady-state sodium valproate concentration was observed across different UGT1A6 and UGT2B7 genotypes.

Conclusions:

  • While distinct UGT1A6 and UGT2B7 gene polymorphism patterns exist in pediatric epilepsy patients, these variations did not significantly alter serum sodium valproate concentrations in this cohort.
  • Further research may be needed to explore other genetic or environmental factors influencing sodium valproate levels.
Abstract

Keywords:
Genetic polymorphismPediatric epilepsySodium valproate

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