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Updated: Jan 4, 2026
Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The role of genomic profiling in identifying molecular phenotypes in obstructive lung diseases
1Division of Pulmonary, Critical Care, Allergy and Sleep Medicine, Department of Medicine, University of California, San Francisco, San Francisco, California, USA.
Purpose Of Review:
The biology underlying asthma and chronic obstructive pulmonary disease (COPD) is heterogeneous. Targeting therapies to patient subgroups, or 'molecular phenotypes', based on their underlying biology is emerging as an efficacious treatment strategy. This review summarizes the role of airway sample gene expression profiling in understanding molecular phenotypes in obstructive lung disease.
Recent Findings:
Recent gene expression studies have reinforced the importance of Type two (T2) inflammation in asthma and COPD subgroups. Studies in asthma also suggest that the molecular phenotype with enhanced T2 inflammation is itself heterogeneous with a subgroup that has steroid-refractory inflammation. Other inflammatory pathways are also emerging as implicated in asthma and COPD molecular phenotypes, including Type one and Type 17 adaptive immune responses and proinflammatory cytokines, such as interleukin-6.
Summary:
Genomic profiling studies are advancing our understanding of the complex biology contributing to asthma and COPD molecular phenotypes. Recent studies suggest that asthma and COPD subgroups may benefit from different treatment strategies than those currently in practice.
Insights
Understanding molecular phenotypes in asthma and COPD is key. Gene expression profiling reveals diverse inflammatory pathways, suggesting personalized treatment strategies for obstructive lung diseases.
Area of Science:
- Pulmonology
- Genomics
- Immunology
Background:
- Asthma and COPD exhibit heterogeneous underlying biology.
- Personalized medicine approaches targeting molecular phenotypes are gaining traction.
- Gene expression profiling is crucial for dissecting disease complexity.
Purpose of the Study:
- To review the role of airway gene expression profiling in identifying molecular phenotypes of obstructive lung diseases.
- To summarize current understanding of biological pathways contributing to asthma and COPD heterogeneity.
Main Methods:
- Analysis of gene expression profiles from airway samples.
- Review of recent genomic and transcriptomic studies in asthma and COPD.
Main Results:
- Type two (T2) inflammation is a significant pathway in specific asthma and COPD subgroups.
- T2 inflammation in asthma is itself heterogeneous, with a steroid-refractory subgroup identified.
- Emerging evidence implicates other inflammatory pathways, including Type 1, Type 17, and interleukin-6.
Conclusions:
- Genomic profiling advances the understanding of complex molecular phenotypes in asthma and COPD.
- Distinct patient subgroups within asthma and COPD may require tailored therapeutic strategies.
- Current treatment paradigms may need revision based on emerging molecular insights.
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