Asthma genomics and pharmacogenomics

Curr Opin Immunol. 2020 Oct:66:136-142. doi: 10.1016/j.coi.2020.10.001. Epub 2020 Nov 7.


In this review, we summarize recent published work interrogating the relationship between genetic variation or gene expression regulation across the genome and asthma or asthma treatment outcomes. This includes 11 genome-wide association studies of asthma phenotypes that collectively identified 64 novel loci; transcriptome-wide asthma association studies which identified genes involved in virus recognition, bacterial infection, lung tissue remodeling, eosinophilic and neutrophilic inflammation and genes in the chromosome 17q12 asthma susceptibility locus; and three epigenome-wide studies of asthma that had robust sample sizes and replicated findings. We also highlight pharmacogenomic studies of corticosteroids, bronchodilator response to albuterol and zileuton, although finding from these studies may still be preliminary due to their relatively small sample sizes and limited availability of replication cohorts.

Publication types

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

MeSH terms

  • Asthma / genetics*
  • Genetic Variation / genetics
  • Humans
  • Pharmacogenetics*