A Genome-Wide Association Study Identifies a Candidate Gene Associated With Atazanavir Exposure Measured in Hair

Clin Pharmacol Ther. 2018 Nov;104(5):949-956. doi: 10.1002/cpt.1014. Epub 2018 Feb 8.

Abstract

Hair provides a direct measure of long-term exposure of atazanavir (ATV). We report the results of the first genome-wide association study (GWAS) of ATV exposure measured in hair in an observational cohort representative of US women living with HIV; the Women's Interagency HIV Study. Approximately 14.1 million single nucleotide polymorphisms (SNPs) were analyzed in linear regression-based GWAS, with replication, adjusted for nongenetic predictors collected under conditions of actual use of ATV in 398 participants. Lastly, the PharmGKB database was used to identify pharmacogene associations with ATV exposure. The rs73208473, within intron 1 of SORCS2, resulted in a 0.46-fold decrease in ATV exposure, with the strongest association (P = 1.71×10-8 ) in GWAS. A priori pharmacogene screening did not identify additional variants statistically significantly associated with ATV exposure, including those previously published in ATV plasma candidate pharmacogene studies. The findings demonstrate the potential value of pharmacogenomic GWAS in ethnically diverse populations under conditions of actual use.

Publication types

  • Multicenter Study
  • Observational Study
  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Atazanavir Sulfate / metabolism*
  • Atazanavir Sulfate / pharmacokinetics
  • Databases, Factual
  • Drug Monitoring / methods*
  • Female
  • Genome-Wide Association Study
  • Genotype
  • HIV Protease Inhibitors / metabolism*
  • HIV Protease Inhibitors / pharmacokinetics
  • Hair / metabolism*
  • Humans
  • Introns
  • Middle Aged
  • Pharmacogenomic Variants*
  • Phenotype
  • Polymorphism, Single Nucleotide*
  • Predictive Value of Tests
  • Receptors, Cell Surface / genetics*
  • Receptors, Cell Surface / metabolism*
  • Reproducibility of Results
  • Tissue Distribution
  • United States

Substances

  • HIV Protease Inhibitors
  • Receptors, Cell Surface
  • SORCS2 protein, human
  • Atazanavir Sulfate