Genetics plays a limited role in predicting chronic obstructive pulmonary disease treatment response and exacerbation

Respir Med. 2021 Oct:187:106573. doi: 10.1016/j.rmed.2021.106573. Epub 2021 Aug 10.

Abstract

Background: Combination treatments, targeting multiple disease processes, benefit subjects with acute exacerbation of chronic obstructive pulmonary disease (AECOPD). However, predicting treatment response and exacerbation risk remain challenging.

Objective: To identify genetic associations with AECOPD risk and response to combination therapy (fluticasone furoate, umeclidinium bromide and vilanterol).

Methods: The genetic basis of AECOPD disease was investigated in 19,841 subjects from 23 clinical studies and 2 disease cohorts to identify exacerbation disease targets. AECOPD pharmacogenetic effects were examined in 8439 moderate to severe COPD patients with exacerbation rate, lung function and quality of life endpoints; results were followed up in an additional 2201 subjects.

Results: We did not identify significant associations in the AECOPD disease analysis. In the AECOPD pharmacogenetics analysis, rs56195836 (MAPK8) was significantly associated with moderate to severe exacerbation rate in subjects on fluticasone furoate with baseline blood eosinophils ≥150 cells/μl (P = 1.8 × 10-8). Post-hoc, one variant was associated with on-treatment moderate to severe exacerbation rate stratifying by exacerbation history. AZU1 rs1962343 was significantly associated in subjects with frequent moderate exacerbation history when treated with fluticasone furoate/vilanterol (P = 1.1 × 10-8). Neither of these signals was supported in independent follow-up.

Conclusion: Common genetic variants do not play major roles in AECOPD disease nor predict response to triple therapy or its components in moderate to very severe COPD.

Keywords: Acute exacerbation; Chronic obstructive pulmonary disease; Disease risk; Genome wide association; Pharmacogenetics; Triple therapy.

Publication types

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

MeSH terms

  • Androstadienes / therapeutic use*
  • Antimicrobial Cationic Peptides / genetics*
  • Benzyl Alcohols / therapeutic use*
  • Blood Proteins / genetics*
  • Chlorobenzenes / therapeutic use*
  • Disease Progression
  • Drug Therapy, Combination
  • Genetic Association Studies*
  • Genetic Variation*
  • Lung / physiopathology
  • Mitogen-Activated Protein Kinase 8 / genetics*
  • Patient Acuity
  • Pulmonary Disease, Chronic Obstructive / drug therapy*
  • Pulmonary Disease, Chronic Obstructive / genetics*
  • Pulmonary Disease, Chronic Obstructive / physiopathology
  • Quality of Life
  • Quinuclidines / therapeutic use*
  • Treatment Outcome

Substances

  • AZU1 protein, human
  • Androstadienes
  • Antimicrobial Cationic Peptides
  • Benzyl Alcohols
  • Blood Proteins
  • Chlorobenzenes
  • GSK573719
  • Quinuclidines
  • vilanterol
  • Mitogen-Activated Protein Kinase 8
  • fluticasone furoate