PPARA: a novel genetic determinant of CYP3A4 in vitro and in vivo

Clin Pharmacol Ther. 2012 Jun;91(6):1044-52. doi: 10.1038/clpt.2011.336.

Abstract

Interindividual variability in cytochrome P450 3A4 (CYP3A4) is believed to be largely heritable; however, predictive genetic factors have remained scarce. Using a candidate-gene approach in a human liver bank, we identified single-nucleotide polymorphisms (SNPs) in the Ah-receptor nuclear translocator (ARNT), glucocorticoid receptor (GR), progesterone receptor membrane component 2 (PGRMC2), and peroxisome proliferator-activated receptor-α (PPARA) that are associated with CYP3A4 phenotype. Validation in atorvastatin-treated volunteers confirmed a decrease in atorvastatin-2-hydroxylation in carriers of PPARA SNP rs4253728. Homozygous carriers expressed significantly less PPAR-α protein in the liver. Moreover, shRNA-mediated PPARA gene knockdown in primary human hepatocytes decreased expression levels of the PPAR-α target ACOX1 and of CYP3A4 by more than 50%. In conclusion, this study identified novel genetic determinants of CYP3A4 that, together with nongenetic factors, explained 52, 55, and 33% of hepatic CYP3A4 mRNA, protein, and atorvastatin-2-hydroxylase activity, respectively. These findings have implications for variability in response to drug substrates of CYP3A4.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Anticholesteremic Agents / metabolism
  • Area Under Curve
  • Aryl Hydrocarbon Hydroxylases / metabolism
  • Atorvastatin
  • Cytochrome P-450 CYP2C9
  • Cytochrome P-450 CYP3A / genetics*
  • Cytochrome P-450 CYP3A / metabolism
  • Data Interpretation, Statistical
  • Female
  • Gene Expression Regulation, Enzymologic / genetics*
  • Gene Expression Regulation, Enzymologic / physiology*
  • Genotype
  • Hepatocytes / metabolism
  • Heptanoic Acids / metabolism
  • Humans
  • Hydroxylation
  • Liver / enzymology
  • Male
  • Microsomes, Liver / metabolism
  • PPAR alpha / genetics*
  • PPAR alpha / metabolism
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Pyrroles / metabolism
  • RNA, Messenger / biosynthesis
  • RNA, Messenger / genetics
  • RNA, Small Interfering / genetics

Substances

  • Anticholesteremic Agents
  • Heptanoic Acids
  • PPAR alpha
  • Pyrroles
  • RNA, Messenger
  • RNA, Small Interfering
  • Atorvastatin
  • CYP2C9 protein, human
  • Cytochrome P-450 CYP2C9
  • Aryl Hydrocarbon Hydroxylases
  • Cytochrome P-450 CYP3A
  • CYP3A4 protein, human