title: Surfactant protein B polymorphisms, pulmonary function and COPD in 10,231 individuals.
abstract: The surfactant protein (SP)-B gene may influence chronic obstructive pulmonary disease (COPD) and, thus, personalised medicine. We tested whether functional polymorphisms in SP-B (rs1130866 (1580T>C), rs2077079 (-18A>C) and rs3024791 (-384G>A)) associate with reduced lung function and risk of COPD in the general population. We genotyped 10,231 individuals from the general adult Danish population, and recorded spirometry and hospital admissions due to COPD. Because we previously found an association between the rare SP-B 121ins2 mutation and COPD among smokers, we stratified the analyses for smoking status. None of the individual SP-B genotypes or genotype combinations were associated with reduced forced expiratory volume in 1 s (FEV₁) % predicted, forced vital capacity (FVC) % pred and FEV₁/FVC overall or among smokers (p = 0.25-0.99). The odds ratio for spirometrically defined COPD did not differ from 1.0 for any of the SP-B genotypes or genotype combinations overall or among smokers (p = 0.17-0.78). Similar results were obtained for hospitalisation due to COPD (p = 0.07-0.93); we could exclude overall hazard ratios for heterozygotes of 1.18-1.21 and for homozygotes of 1.25-1.57 or larger for all three polymorphisms. In conclusion, the functional rs1130866, rs2077079 and rs3024791 polymorphisms in the SP-B gene are not associated with reduced lung function or risk of COPD, making it unlikely that these variants will be useful in personalised medicine.
authors.affiliation: Dept of Clinical Biochemistry, Herlev Hospital, Copenhagen University Hospital, Herlev, Denmark. mordah02@heh.regionh.dk
authors.forename: M
authors.initials: M
authors.lastname: Bækvad-Hansen
authors.forename: B G
authors.initials: BG
authors.lastname: Nordestgaard
authors.forename: M
authors.initials: M
authors.lastname: Dahl
mesh_terms: D000328:Adult; D000368:Aged; D001249:Asthma / Q000235:genetics; D005260:Female; D005541:Forced Expiratory Volume; D005838:Genotype; D006801:Humans; D008168:Lung / Q000378:metabolism; D017563:Lung Diseases, Interstitial / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011014:Pneumonia / Q000175:diagnosis; D011110:Polymorphism, Genetic; D011446:Prospective Studies; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics* / Q000378:metabolism; D037701:Pulmonary Surfactant-Associated Protein B / Q000235:genetics*; D012129:Respiratory Function Tests; D012306:Risk
chemical_list: D037701:Pulmonary Surfactant-Associated Protein B