Role of CYP24A1, VDR and GC gene polymorphisms on deferasirox pharmacokinetics and clinical outcomes

Pharmacogenomics J. 2018 May 22;18(3):506-515. doi: 10.1038/tpj.2017.43. Epub 2017 Nov 21.

Abstract

β-Thalassemia patients develop deficiency in vitamin D absorption and liver hydroxylation, resulting in extremely low calcitriol levels. We explored the role of single-nucleotide polymorphisms (SNPs) involved in vitamin D metabolism, transport and activity on deferasirox pharmacokinetics and outcomes (effectiveness trough levels (Ctrough) and the area under the curve (AUC) cutoffs of 20 μg ml-1 and 360 μg ml-1 h-1, respectively; nonresponse AUC limit of 250 μg ml-1 h-1). Ninety-nine β-thalassemic patients were enrolled. Drug plasma Ctrough and AUC were measured by the high-performance liquid chromatography system coupled with an ultraviolet determination method. Allelic discrimination for VDR, CYP24A1, CYP27B1 and GC gene SNPs was performed by real-time PCR. CYP24A1 22776 TT significantly influenced Cmin and negatively predicted it in regression analysis. CYP24A1 3999 CC was associated with Ctrough and Cmin and was a negative predictor of Tmax, whereas CYP24A1 8620 GG seemed to have a role in Ctrough, AUC, t1/2 and Cmin, and was an AUC negative predictor factor. Considering treatment outcome, Cdx2 and GC 1296 were retained in regression analysis as AUC efficacy cutoff negative predictors.

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Deferasirox / administration & dosage*
  • Deferasirox / adverse effects
  • Deferasirox / blood
  • Female
  • Genotype
  • Humans
  • Liver / drug effects
  • Liver / metabolism
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Receptors, Calcitriol / genetics*
  • Treatment Outcome
  • Vitamin D / genetics
  • Vitamin D / metabolism
  • Vitamin D Deficiency / drug therapy
  • Vitamin D Deficiency / genetics
  • Vitamin D Deficiency / pathology
  • Vitamin D-Binding Protein / genetics*
  • Vitamin D3 24-Hydroxylase / genetics*
  • Young Adult
  • beta-Thalassemia / drug therapy*
  • beta-Thalassemia / genetics
  • beta-Thalassemia / pathology

Substances

  • Receptors, Calcitriol
  • VDR protein, human
  • Vitamin D-Binding Protein
  • Vitamin D
  • Vitamin D3 24-Hydroxylase
  • Deferasirox