A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample
Ma'en Obeidat1, Louise V Wain, Nick Shrine
1Nottingham Respiratory Biomedical Research Unit, Division of Therapeutics and Molecular Medicine, University Hospital of Nottingham, Nottingham, United Kingdom.
Plos One
|June 1, 2011
Summary
Genetic analysis of lung function did not confirm many previously reported associations. However, SERPINA1 gene variants may influence FEV1 in smokers, highlighting a potential link for further research.
Area of Science:
- Genetics
- Pulmonary Medicine
- Population Health
Background:
- Lung function measures are heritable and crucial for diagnosing COPD.
- Previous genetic association studies for lung function have yielded conflicting results.
- A meta-analysis of Genome-Wide Association Study (GWAS) data from the SpiroMeta consortium (20,288 individuals) was conducted.
Purpose of the Study:
- To comprehensively analyze previously reported genetic associations with lung function.
- To investigate associations between single nucleotide polymorphisms (SNPs) in known lung function-related genomic regions and lung function in a large population sample.
Main Methods:
- Systematic literature review in PubMed for genetic association studies on lung function.
- Analysis of association for SNPs tagging 130 genes and 48 intergenic regions.
- Included 16,936 genotyped and imputed SNPs from the SpiroMeta consortium.
Main Results:
- No loci showed significant overall association for FEV1 or FEV1/FVC ratio at a threshold of 1.3×10(-5).
- SNPs tagging MACROD2, CNTN5, and TRPV4 showed the most significant associations with FEV1.
- Among ever-smokers, SERPINA1 and PDE4D showed the most significant associations with FEV1; ABCC1 and ESR1 with FEV1/FVC ratio.
Conclusions:
- Previously associated lung function genes did not show strong evidence of association in the SpiroMeta population.
- Common SERPINA1 polymorphisms may influence FEV1 in smokers within the general population.
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