Pharmacogenetics of ABCB5, ABCC5 and RLIP76 and doxorubicin pharmacokinetics in Asian breast cancer patients

Pharmacogenomics J. 2017 Jul;17(4):337-343. doi: 10.1038/tpj.2016.17. Epub 2016 Mar 15.

Abstract

This study investigated the impact of ABCB5, ABCC5 and RLIP76 polymorphisms on doxorubicin pharmacokinetics in Asian breast cancer patients (N=62). Direct sequencing was performed to screen for previously identified ABCC5 polymorphisms as well as polymorphisms in the exons and exon-intron boundaries of ABCB5 and RLIP76 genes. Genotype-phenotype correlations were analyzed using Mann-Whitney U-test. The homozygous variant allele at the ABCC5 g.+7161G>A (rs1533682) locus was significantly associated with higher doxorubicin clearance (g.+7161AA vs g.+7161GG, CL/BSA (Lh-1m-2): 30.34 (25.41-33.60) vs 22.46 (15.04-49.4), P=0.04). Homozygosity for the reference allele at the ABCC5 g.-1679T>A locus was associated with significantly higher doxorubicinol exposure (g.-1679TT vs g.-1679TA, AUC0-∞/dose/BSA (hm-5): 15.48 (6.18-67.17) vs 8.88 (3.68-21.71), P=0.0001). No significant influence of the three newly identified ABCB5 polymorphisms (c.2T>C, c.343A>G and c.1573G>A) on doxorubicin pharmacokinetics was observed. No polymorphisms were identified in the RLIP76 gene. These findings suggest that ABCC5 polymorphisms may explain partially the interpatient variability in doxorubicin disposition.

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B
  • ATP Binding Cassette Transporter, Subfamily B, Member 1 / genetics*
  • ATP-Binding Cassette Transporters / genetics*
  • Adult
  • Aged
  • Alleles
  • Antibiotics, Antineoplastic / pharmacokinetics
  • Antibiotics, Antineoplastic / therapeutic use
  • Asian People / genetics*
  • Breast Neoplasms / drug therapy*
  • Breast Neoplasms / genetics*
  • Doxorubicin / pharmacokinetics*
  • Doxorubicin / therapeutic use
  • Exons / genetics
  • Female
  • GTPase-Activating Proteins / genetics*
  • Gene Frequency / genetics
  • Genetic Association Studies
  • Genotype
  • Haplotypes / genetics
  • Humans
  • Middle Aged
  • Multidrug Resistance-Associated Proteins / genetics*
  • Pharmacogenetics / methods
  • Polymorphism, Genetic / genetics

Substances

  • ABCB5 protein, human
  • ABCC5 protein, human
  • ATP Binding Cassette Transporter, Subfamily B
  • ATP Binding Cassette Transporter, Subfamily B, Member 1
  • ATP-Binding Cassette Transporters
  • Antibiotics, Antineoplastic
  • GTPase-Activating Proteins
  • Multidrug Resistance-Associated Proteins
  • RALBP1 protein, human
  • Doxorubicin