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Dysanapsis Genetic Risk Predicts Lung Function Across the Lifespan.
Catherine L Debban1, Amirthagowri Ambalavanan2, Auyon Ghosh3
1Center for Public Health Genomics, University of Virginia, Charlottesville, Virginia.
Summary
Dysanapsis, a lung development mismatch, is linked to genetic variations affecting lung function from childhood to adulthood. This genetic risk score predicts obstructive lung disease, suggesting dysanapsis as a key link to COPD.
Area of Science:
- Genetics
- Pulmonology
- Medical Imaging
Background:
- Dysanapsis, a mismatch between airway and lung size, originates early in life.
- Computed tomography (CT)-assessed dysanapsis is linked to later chronic obstructive pulmonary disease (COPD) risk.
- Understanding the genetic basis of dysanapsis is crucial for elucidating its lifelong physiological impact.
Purpose of the Study:
- To identify genetic factors contributing to CT-assessed dysanapsis.
- To explore the molecular underpinnings and lifelong physiological significance of dysanapsis.
- To investigate the association between dysanapsis genetic risk and lung function across different age groups.
Main Methods:
- Genome-wide association study (GWAS) of CT-assessed dysanapsis in 11,951 adults.
- Colocalization analysis integrating GWAS and gene expression data (whole blood and lung).
- Development and application of a dysanapsis genetic risk score in pediatric and adult cohorts.
Main Results:
- Twenty-one independent genetic signals in 19 gene regions were associated with dysanapsis.
- Genes such as HHIP, DSP, and NPNT were identified as potential molecular targets.
- A higher dysanapsis genetic risk score correlated with obstructive spirometry in children and adults.
Conclusions:
- CT-assessed dysanapsis is associated with genetic variations in lung development genes.
- Dysanapsis genetic risk is linked to obstructive lung function from early life to older adulthood.
- Dysanapsis may serve as an endophenotype connecting genetic factors for lung function and COPD risk.
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