Genome wide interaction study of genetic variants associated with lung function decline
Chi Young Kim1, Boram Park2, Ji Ye Jung1
1Department of Internal Medicine, Yonsei University College of Medicine, Seoul, Republic of Korea.
Scientific Reports
|March 22, 2025
Summary
This study links genetic variants to lung function decline and chronic obstructive pulmonary disease (COPD) risk. It identified new gene regions involved in gene-environment interactions, particularly in smokers.
Area of Science:
- Genetics
- Pulmonology
- Epidemiology
Background:
- Genetic variants influence lung function decline and chronic obstructive pulmonary disease (COPD) risk.
- Functional studies are crucial to confirm the causal role of these genetic associations.
Purpose of the Study:
- To investigate genetic susceptibility associated with lung function decline and COPD.
- To examine gene-environment interactions, specifically with smoking status and amount.
- To explore gene-time interactions in lung function decline within the Korean population.
Main Methods:
- Genome-wide interaction study on a community-based cohort (N=8554).
- Analysis of genetic variants' association with pulmonary function (FEV1/FVC).
- Linear mixed-effects models to assess time-dependent effects and interactions.
Main Results:
- Identified a significant locus near FAM13A associated with FEV1/FVC decline.
- Found that current smokers exhibit the fastest annual decline in FEV1.
- Discovered two novel genomic regions (DNAH11, AADAT) potentially involved in gene-environment interactions affecting lung function.
Conclusions:
- Replicated known signals for FAM13A and identified novel genetic regions (DNAH11, AADAT) influencing lung function decline.
- Highlighted the significant impact of smoking on lung function decline.
- Emphasized the importance of gene-time and gene-environment interactions in COPD pathogenesis, warranting further research.
Keywords:
AADAT geneDNAH11 geneFAM13A geneAirflow obstructionChronic obstructive pulmonary diseaseGenome-wide association studySingle nucleotide polymorphismMore Related Videos
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