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Discerning asthma endotypes through comorbidity mapping
Gengjie Jia1,2,3, Xue Zhong4, Hae Kyung Im1,5
1Department of Medicine, University of Chicago, Chicago, IL, 60637, USA.
Nature Communications
|November 7, 2022
Summary
Identifying distinct asthma endotypes is crucial. This study computationally discovered 22 asthma comorbidity subgroups, revealing unique genetic risk loci and phenotypes, advancing personalized asthma care.
Area of Science:
- Genetics and genomics
- Pulmonary medicine
- Computational biology
Background:
- Asthma is a complex respiratory condition with poorly understood subtypes (endotypes).
- Identifying distinct asthma endotypes is critical for developing targeted therapies and improving patient outcomes.
- Genetic variations and environmental exposures likely contribute to asthma heterogeneity.
Approach:
- Utilized large-scale electronic health records (>151M US residents) to computationally identify 22 distinct asthma comorbidity subgroups.
- Validated 11 subgroups in the UK Biobank cohort.
- Performed genome-wide association studies (GWAS) within subgroups and across combined cohorts to identify asthma risk loci.
- Conducted multi-ancestry meta-analyses across US and Japanese populations.
Key Points:
- Discovered 22 distinct asthma comorbidity subgroups, serving as potential surrogates for underlying genetic and environmental variations.
- Identified 109 independent asthma risk loci, with 52 replicated across diverse ancestries.
- Found that 14 loci confer risk across multiple subgroups, while 6 are specific to single subgroups.
- Observed significant variation in asthma-associated phenotypes across different subgroups.
Conclusions:
- This research reveals distinct subpopulations of asthma patients characterized by unique comorbidity patterns, genetic risk loci, and health-related phenotypes.
- The findings provide a foundation for endotype-specific diagnostics and therapeutics in asthma.
- Computational identification of disease subgroups advances our understanding of complex diseases like asthma.
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