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Two novel mutations in surfactant protein-C, lung function and obstructive lung disease
Marie Baekvad-Hansen1, Børge G Nordestgaard, Anne Tybjaerg-Hansen
1Department of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Faculty of Health Sciences, Herlev Ringvej 75, DK 2730 Herlev, Copenhagen, Denmark.
Respiratory Medicine
|November 14, 2009
Summary
Novel mutations in the surfactant protein-C (SFTPC) gene were identified. While most did not affect lung function or disease risk, one mutation (A53T) showed a potential link to increased asthma risk in the general population.
Area of Science:
- Genetics
- Pulmonology
- Molecular Biology
Background:
- Dominant mutations in the surfactant protein-C (SFTPC) gene are associated with interstitial lung disease.
- The prevalence of SFTPC mutations and their impact on lung health in the general population remain largely unknown.
Purpose of the Study:
- To identify novel SFTPC gene mutations.
- To investigate the association of these mutations with lung function and disease prevalence in a general population.
Main Methods:
- Resequencing of the SFTPC gene in 760 individuals to identify variants.
- Genotyping of two novel mutations (A53T, Y106X) in large population cohorts (Copenhagen City Heart Study and Copenhagen General Population Study).
- Analysis of lung function parameters (FEV1% predicted, FVC% predicted, FEV1/FVC) and disease risks (asthma, COPD, ILD) in mutation carriers versus non-carriers.
Main Results:
- Five novel SFTPC variants were identified, with two (A53T and Y106X) located in highly conserved regions.
- Individuals heterozygous for A53T or Y106X mutations exhibited normal lung function and no increased risk for chronic obstructive pulmonary disease (COPD) or interstitial lung disease (ILD).
- A significant two-fold increased risk for asthma was observed in A53T heterozygotes across combined cohorts, although further research is needed for confirmation.
Conclusions:
- Two novel SFTPC mutations were discovered in conserved gene regions.
- Heterozygosity for these mutations does not appear to impact overall lung function or increase the risk of COPD or ILD.
- The A53T mutation warrants further investigation due to a potential association with an increased risk of asthma.
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