Tissue-specific genetic features inform prediction of drug side effects in clinical trials

Sci Adv. 2020 Sep 10;6(37):eabb6242. doi: 10.1126/sciadv.abb6242. Print 2020 Sep.

Abstract

Adverse side effects often account for the failure of drug clinical trials. We evaluated whether a phenome-wide association study (PheWAS) of 1167 phenotypes in >360,000 U.K. Biobank individuals, in combination with gene expression and expression quantitative trait loci (eQTL) in 48 tissues, can inform prediction of drug side effects in clinical trials. We determined that drug target genes with five genetic features-tissue specificity of gene expression, Mendelian associations, phenotype- and tissue-level effects of genome-wide association (GWA) loci driven by eQTL, and genetic constraint-confer a 2.6-fold greater risk of side effects, compared to genes without such features. The presence of eQTL in multiple tissues resulted in more unique phenotypes driven by GWA loci, suggesting that drugs delivered to multiple tissues can induce several side effects. We demonstrate the utility of PheWAS and eQTL data from multiple tissues for informing drug side effect prediction and highlight the need for tissue-specific drug delivery.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Clinical Trials as Topic
  • Drug-Related Side Effects and Adverse Reactions* / genetics
  • Genome-Wide Association Study* / methods
  • Humans
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci