Association analysis of CYP2C9*3 and phenytoin-induced severe cutaneous adverse reactions (SCARs) in Thai epilepsy children

J Hum Genet. 2015 Aug;60(8):413-7. doi: 10.1038/jhg.2015.47. Epub 2015 May 21.

Abstract

CYP2C9 is the key enzyme in aromatic antiepileptic drugs (AEDs) metabolism. CYP2C9*3 is a loss of function polymorphism. This study was designed to investigate genetic association between CYP2C9*3 and aromatic AED-induced severe cutaneous adverse reactions (SCARs) in Thai children. The 37 aromatic AED-induced SCARs patients (20 phenobarbital and 17 phenytoin) and 35 tolerances (19 phenobarbital and 16 phenytoin) were enrolled. CYP2C9*3 was genotyped by allele-specific PCRs. The association between CYP2C9*3 with phenytoin-induced SCARs and phenobarbital-induced SCARs were analyzed in comparison with tolerances and healthy samples. Significant association between phenytoin-induced SCARs and CYP2C9*3 was discovered (odds ratio=14.52; 95% confidence interval (CI)=1.18-∞, P-value=0.044). CYP2C9*3 was not associated with phenobarbital-induced SCARs. This study is the first report of CYP2C9*3 association to phenytoin-induced SCARs in Thai epileptic children. The CYP2C9*3 is a reasonable predictive genetic marker to anticipate SCARs from phenytoin.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anticonvulsants / adverse effects
  • Anticonvulsants / therapeutic use
  • Child
  • Child, Preschool
  • Cytochrome P-450 CYP2C9 / genetics*
  • Drug Eruptions / diagnosis
  • Drug Eruptions / epidemiology
  • Drug Eruptions / genetics*
  • Epilepsy / drug therapy*
  • Epilepsy / epidemiology
  • Epilepsy / genetics
  • Female
  • Genetic Predisposition to Disease
  • Genome-Wide Association Study
  • Humans
  • Male
  • Phenytoin / adverse effects*
  • Phenytoin / therapeutic use
  • Severity of Illness Index
  • Thailand / epidemiology

Substances

  • Anticonvulsants
  • Phenytoin
  • CYP2C9 protein, human
  • Cytochrome P-450 CYP2C9