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Revealing polygenic pleiotropy using genetic risk scores for asthma
Matthew Dapas1, Yu Lin Lee1,2, William Wentworth-Sheilds1
1Department of Human Genetics, University of Chicago, Chicago, IL, USA.
HGG Advances
|September 4, 2023
Summary
Genetic risk for asthma is linked to numerous other health conditions and traits. This study reveals widespread genetic overlap, known as pleiotropy, between asthma and various diseases, offering insights into shared biological pathways.
Area of Science:
- Genetics
- Pulmonology
- Epidemiology
Background:
- Asthma is a complex respiratory disease with a significant genetic component.
- Understanding the genetic architecture of asthma and its relationship with other traits is crucial for developing targeted therapies.
Purpose of the Study:
- To investigate the association between genetic risk for asthma and diverse clinical features and medical conditions.
- To identify shared genetic pathways between asthma and other heritable traits through phenome-wide association studies.
Main Methods:
- Utilized summary statistics from multi-ancestry genome-wide association studies (GWAS) for asthma.
- Modeled polygenic risk scores (PRSs) for asthma and validated them in the UK Biobank.
- Conducted phenome-wide association studies (PheWAS) of asthma PRSs against 371 heritable traits in the UK Biobank.
Main Results:
- Identified 228 significant associations between asthma genetic risk and various traits across multiple organ systems.
- Observed variations in associations based on PRS model, sex, age of asthma onset, ancestry, and human leukocyte antigen (HLA) alleles.
- Demonstrated pervasive pleiotropy between asthma and numerous other conditions.
Conclusions:
- Genetic risk for asthma is extensively pleiotropic, influencing a wide range of other traits and conditions.
- Elucidated biological pathways contributing to asthma pathogenesis and its common comorbidities.
- Findings provide a foundation for understanding the genetic basis of asthma comorbidities and developing personalized medicine approaches.
Keywords:
GBMIGlobal Biobank Meta-analysis InitativeHLAPRSPheWASUK BiobankUKBasthmaphenome-wide association studypleiotropypolygenic risk scoreMore Related Videos
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