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Updated: Sep 19, 2025

Generation of Human 3D Lung Tissue Cultures 3D-LTCs for Disease Modeling
Published on: February 12, 2019
Lung development genes, adult lung function and cardiovascular comorbidities.
Laura Portas1,2,3, Mohammad Talaei4, Charlotte Dean5
1National Heart and Lung Institute, Imperial College London, London, UK Laura.Portas@ndph.ox.ac.uk.
Shared developmental pathways may link reduced lung function, particularly forced vital capacity (FVC), to higher cardiovascular risk. This genetic analysis explored connections between lung development genes and cardiovascular traits.
Area of Science:
- Genetics
- Cardiology
- Pulmonology
Background:
- Lower adult lung function is linked to increased cardiovascular disease, but the underlying mechanisms remain unclear.
- Shared developmental signalling pathways are crucial for lung development and repair, and may influence cardiovascular health.
- This study investigates if these shared pathways explain the association between lung function and cardiovascular comorbidity.
Purpose of the Study:
- To investigate shared genetic pathways between lung function and cardiovascular traits.
- To determine if variants associated with lung function genes are also associated with cardiovascular diseases.
- To explore potential genetic links explaining the comorbidity of lung and heart conditions.
Main Methods:
- Utilized UK Biobank data for pairwise colocalisation analysis of 55 lung development genes.
- Examined associations with coronary heart disease (CHD), blood pressure, and arterial stiffness.
- Performed meta-analysis for CHD using UK Biobank and CARDIoGRAM consortium data.
Main Results:
- Identified 12 genes with shared variants between lung function (FVC, FEV1/FVC) and cardiovascular traits (H4 colocalisation).
- Seven signals for hypertension and CHD replicated in FinnGen, with poor replication in China Kadoorie Biobank.
- Found 10 additional genes with genetic associations within the same gene but different variants (H3 colocalisation), with six novel for cardiovascular traits.
Conclusions:
- Shared developmental pathways between lung and cardiovascular systems likely contribute to the observed association.
- Reduced lung function, especially FVC, may be genetically linked to increased cardiovascular risk via these pathways.
- Findings highlight novel genetic links for cardiovascular traits and underscore the importance of developmental biology in disease etiology.
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