Exploring public genomics data for population pharmacogenomics

PLoS One. 2017 Aug 3;12(8):e0182138. doi: 10.1371/journal.pone.0182138. eCollection 2017.

Abstract

Racial and ethnic differences in drug responses are now well studied and documented. Pharmacogenomics research seeks to unravel the genetic underpinnings of inter-individual variability with the aim of tailored-made theranostics and therapeutics. Taking into account the differential expression of pharmacogenes coding for key metabolic enzymes and transporters that affect drug pharmacokinetics and pharmacodynamics, we advise that data interpretation and analysis need to occur in light of geographical ancestry, if implications for drug development and global health are to be considered. Herein, we exploit ePGA, a web-based electronic Pharmacogenomics Assistant and publicly available genetic data from the 1000 Genomes Project to explore genotype to phenotype associations among the 1000 Genomes Project populations.

MeSH terms

  • Cytochrome P-450 Enzyme System / genetics
  • Databases, Factual
  • Gene Frequency
  • Genetic Association Studies
  • Genome, Human*
  • Genotype
  • Haplotypes
  • Humans
  • Metagenomics*
  • Phenotype
  • Population Groups / genetics*
  • User-Computer Interface

Substances

  • Cytochrome P-450 Enzyme System

Grants and funding

Part of this work was funded by grants from the European Commission [FP7-305444 (RD-Connect); H2020-668353 (U-PGx)] and the OPCE II; Greek-EU operational program (11ΣYN_10_145; eMoDiA) to GPP.