Polymorphic variation in surfactant protein B is associated with COPD exacerbations
M G Foreman1, D L DeMeo, C P Hersh
1Channing Laboratory, Brigham and Women's Hospital, Boston, MA 02115, USA.
The European Respiratory Journal
|June 14, 2008
Summary
Genetic variations in surfactant protein B (SFTPB) are linked to chronic obstructive pulmonary disease (COPD) exacerbations. This study identified specific SFTPB polymorphisms associated with increased COPD exacerbation frequency in patients.
Area of Science:
- Pulmonary Medicine
- Genetics
- Respiratory Diseases
Background:
- Exacerbations of chronic obstructive pulmonary disease (COPD) significantly impact patient quality of life and mortality.
- Individual variability in COPD exacerbation frequency suggests a role for genetic factors.
- Previous research linked certain gene polymorphisms to COPD susceptibility.
Purpose of the Study:
- To investigate the association between polymorphisms in five candidate genes (EPHX1, TGFB1, SERPINE2, GSTP1, SFTPB) and the frequency of COPD exacerbations.
- To identify specific genetic variations that may predict COPD exacerbation risk.
Main Methods:
- Genotyping of 88 single nucleotide polymorphisms (SNPs) in candidate genes among 389 participants of the National Emphysema Treatment Trial.
- Exacerbations were identified using claims data for emergency room visits or hospitalizations.
- Statistical analyses included logistic regression for exacerbation presence/absence and negative binomial regression for exacerbation rates.
Main Results:
- A significant association was found between an SFTPB promoter polymorphism (rs3024791) and COPD exacerbations.
- Multiple SFTPB SNPs (rs2118177, rs2304566, rs1130866, rs3024791) were associated with COPD exacerbation rates.
- No significant associations were observed for polymorphisms in EPHX1, GSTP1, TGFB1, and SERPINE2 with COPD exacerbations.
Conclusions:
- Genetic variations within the surfactant protein B (SFTPB) gene are associated with both COPD susceptibility and the frequency of exacerbations.
- SFTPB gene polymorphisms represent potential biomarkers for predicting COPD exacerbation risk.
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