Genome-wide interaction study reveals age-dependent determinants of responsiveness to inhaled corticosteroids in individuals with asthma

PLoS One. 2020 Mar 2;15(3):e0229241. doi: 10.1371/journal.pone.0229241. eCollection 2020.

Abstract

While genome-wide association studies have identified genes involved in differential treatment responses to inhaled corticosteroids (ICS) in asthma, few studies have evaluated the potential effects of age in this context. A significant proportion of asthmatics experience exacerbations (hospitalizations and emergency department visits) during ICS treatment. We evaluated the interaction of genetic variation and age on ICS response (measured by the occurrence of exacerbations) through a genome-wide interaction study (GWIS) of 1,321 adult and child asthmatic patients of European ancestry. We identified 107 genome-wide suggestive (P<10-05) age-by-genotype interactions, two of which also met genome-wide significance (P<5x10-08) (rs34631960 [OR 2.3±1.6-3.3] in thrombospondin type 1 domain-containing protein 4 (THSD4) and rs2328386 [OR 0.5±0.3-0.7] in human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2)) by joint analysis of GWIS results from discovery and replication populations. In addition to THSD4 and HIVEP2, age-by-genotype interactions also prioritized genes previously identified as asthma candidate genes, including DPP10, HDAC9, TBXAS1, FBXL7, and GSDMB/ORMDL3, as pharmacogenomic loci as well. This study is the first to link these genes to a pharmacogenetic trait for asthma.

Publication types

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

MeSH terms

  • ADAM Proteins / genetics
  • Administration, Inhalation
  • Adolescent
  • Adrenal Cortex Hormones / administration & dosage*
  • Adrenal Cortex Hormones / therapeutic use
  • Adult
  • Age Factors
  • Aged
  • Anti-Asthmatic Agents / administration & dosage*
  • Anti-Asthmatic Agents / therapeutic use
  • Asthma / drug therapy*
  • Asthma / genetics
  • Case-Control Studies
  • Child
  • Child, Preschool
  • DNA-Binding Proteins / genetics
  • Emergency Service, Hospital
  • Female
  • Genome-Wide Association Study
  • Histone Deacetylases / genetics
  • Hospitalization / statistics & numerical data
  • Humans
  • Male
  • Middle Aged
  • Pharmacogenomic Variants*
  • Polymorphism, Single Nucleotide*
  • Repressor Proteins / genetics
  • Transcription Factors / genetics
  • Treatment Outcome
  • Young Adult

Substances

  • Adrenal Cortex Hormones
  • Anti-Asthmatic Agents
  • DNA-Binding Proteins
  • Repressor Proteins
  • Transcription Factors
  • HIVEP2 protein, human
  • ADAM Proteins
  • THSD4 protein, human
  • HDAC9 protein, human
  • Histone Deacetylases