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Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals.
M Bækvad-Hansen1, B G Nordestgaard, M Dahl
1Dept of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. mordah02@heh.regionh.dk
The European Respiratory Journal
|August 10, 2010
Summary
Genetic variations in the surfactant protein (SP)-B gene do not appear to increase the risk of chronic obstructive pulmonary disease (COPD) or affect lung function in the general population. These SP-B gene polymorphisms are unlikely to be useful for personalized medicine approaches to COPD.
Area of Science:
- Pulmonary Medicine
- Genetics
- Personalized Medicine
Background:
- The surfactant protein (SP)-B gene plays a role in lung function and has been investigated for its potential influence on chronic obstructive pulmonary disease (COPD).
- Previous research suggested a link between a rare SP-B mutation and COPD in smokers, prompting further investigation into other SP-B gene functional polymorphisms.
Purpose of the Study:
- To investigate the association between functional polymorphisms in the SP-B gene (rs1130866, rs2077079, and rs3024791) and lung function.
- To determine if these SP-B gene polymorphisms are associated with the risk of developing COPD in the general population, considering smoking status.
Main Methods:
- Genotyping of 10,231 individuals from the Danish general adult population for three SP-B gene polymorphisms: rs1130866, rs2077079, and rs3024791.
- Spirometry measurements (FEV₁, FVC, FEV₁/FVC) and hospital admission data for COPD were recorded.
- Statistical analyses were performed on the overall population and stratified by smoking status to assess associations with lung function and COPD risk.
Main Results:
- No significant associations were found between the individual SP-B genotypes or their combinations and reduced forced expiratory volume in 1 second (FEV₁) % predicted, forced vital capacity (FVC) % predicted, or FEV₁/FVC ratio.
- The odds ratio for spirometrically defined COPD did not differ significantly from 1.0 for any of the tested SP-B genotypes or combinations, neither overall nor among smokers.
- Analyses of hospitalizations due to COPD also showed no significant associations, with upper limits for hazard ratios for heterozygotes and homozygotes being relatively low.
Conclusions:
- The functional polymorphisms rs1130866, rs2077079, and rs3024791 in the SP-B gene are not associated with reduced lung function or an increased risk of COPD.
- These specific SP-B gene variants are unlikely to be valuable biomarkers for personalized medicine strategies aimed at preventing or managing COPD.
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