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Frequency of the CYP2C19*17 polymorphism in a Chilean population and its effect on voriconazole plasma concentration

N Espinoza1, J Galdames1, D Navea1

  • 1Laboratorio Clínico, Hospital Dr. Luis Calvo Mackenna, Santiago, Chile.

Scientific Reports
|June 22, 2019
PubMed

Insights

The CYP2C19*17 genetic variant accelerates voriconazole metabolism in Chilean children, leading to sub-therapeutic drug levels. This finding suggests personalized dosing based on genetic profiles for better invasive fungal infection treatment.

Area of Science:

  • Pharmacogenomics
  • Clinical Pharmacology
  • Pediatric Infectious Diseases

Background:

  • Invasive fungal infections (IFIs) pose significant risks for immunocompromised children.
  • Voriconazole is a critical first-line treatment for IFIs, but its efficacy is hampered by variable pharmacokinetics.
  • The CYP2C19 enzyme, responsible for voriconazole metabolism, exhibits significant genetic polymorphism.

Purpose of the Study:

  • To determine the frequency of the CYP2C19*17 polymorphism (rs12248560) in a Chilean pediatric population.
  • To investigate the association between the rs12248560 variant and voriconazole plasma concentrations in immunocompromised children.
  • To inform personalized voriconazole dosing strategies in pediatric patients.

Main Methods:

  • Genotyping for the rs12248560 variant in 232 healthy Chilean children.
  • Analysis of voriconazole plasma concentrations in 33 immunocompromised children treated with the drug.
  • Statistical analysis to compare voriconazole levels between carriers and non-carriers of the rs12248560 variant.

Main Results:

  • The allelic frequency of the rs12248560 variant in the Chilean population was 12%.
  • Children carrying the rs12248560 variant exhibited significantly lower voriconazole plasma concentrations compared to non-carriers (p=0.011).
  • The CYP2C19*17 variant was associated with accelerated voriconazole metabolism.

Conclusions:

  • The rs12248560 variant is present in the Chilean population and impacts voriconazole pharmacokinetics.
  • Genetic screening for CYP2C19*17 may be beneficial for optimizing voriconazole dosage in immunocompromised children.
  • Personalized dosing approaches considering genetic variations can improve treatment outcomes for IFIs.

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