Genome-wide association study identifies the common variants in CYP3A4 and CYP3A5 responsible for variation in tacrolimus trough concentration in Caucasian kidney transplant recipients

Pharmacogenomics J. 2018 May 22;18(3):501-505. doi: 10.1038/tpj.2017.49. Epub 2017 Nov 21.

Abstract

The immunosuppressant tacrolimus (TAC) is metabolized by both cytochrome P450 3A4 (CYP3A4) and CYP3A5 enzymes. It is common for European Americans (EA) to carry two CYP3A5 loss-of-function (LoF) variants that profoundly reduces TAC metabolism. Despite having two LoF alleles, there is still considerable variability in TAC troughs and identifying additional variants in genes outside of the CYP3A5 gene could provide insight into this variability. We analyzed TAC trough concentrations in 1345 adult EA recipients with two CYP3A5 LoF alleles in a genome-wide association study. Only CYP3A4*22 was identified and no additional variants were genome-wide significant. Additional high allele frequency genetic variants with strong genetic effects associated with TAC trough variability are unlikely to be associated with TAC variation in the EA population. These data suggest that low allele frequency variants, identified by DNA sequencing, should be evaluated and may identify additional variants that contribute to TAC pharmacokinetic variability.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Cytochrome P-450 CYP3A / genetics*
  • Female
  • Gene Frequency
  • Genome-Wide Association Study*
  • Genotype
  • Graft Rejection / blood
  • Graft Rejection / genetics
  • Graft Rejection / pathology
  • Humans
  • Immunosuppressive Agents / blood
  • Immunosuppressive Agents / pharmacokinetics
  • Immunosuppressive Agents / therapeutic use
  • Kidney Transplantation*
  • Male
  • Middle Aged
  • Polymorphism, Single Nucleotide
  • Tacrolimus / blood
  • Tacrolimus / pharmacokinetics*
  • Tacrolimus / therapeutic use
  • Transplant Recipients
  • White People / genetics

Substances

  • Immunosuppressive Agents
  • CYP3A5 protein, human
  • Cytochrome P-450 CYP3A
  • CYP3A4 protein, human
  • Tacrolimus