Abstract
| Originalsprog | Engelsk |
|---|---|
| Tidsskrift | American Journal of Respiratory and Critical Care Medicine |
| Vol/bind | 181 |
| Udgave nummer | 1 |
| Sider (fra-til) | 17-20 |
| Antal sider | 4 |
| ISSN | 1073-449X |
| DOI | |
| Status | Udgivet - 2010 |
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I: American Journal of Respiratory and Critical Care Medicine, Bind 181, Nr. 1, 2010, s. 17-20.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review
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TY - JOUR
T1 - Surfactant Protein-B 121ins2 Heterozygosity, Reduced Pulmonary Function and COPD in Smokers
AU - Bækvad-Hansen, Marie
AU - Dahl, Morten
AU - Tybjærg-Hansen, Anne
AU - Nordestgaard, Børge
PY - 2010
Y1 - 2010
N2 - RATIONALE: Hereditary surfactant protein-B deficiency is an autosomal recessive disorder that causes fatal respiratory distress syndrome in newborns. Seventy percent of the cases of hereditary surfactant protein-B deficiency are caused by homozygosity for the 121ins2 mutation in the surfactant protein-B gene. Individuals heterozygous for this mutation have partial absence of surfactant protein-B and could be at risk of lung disease when exposed to additional risk factors for impaired surfactant function such as tobacco smoking. OBJECTIVES: To test whether individuals heterozygous for the 121ins2 mutation have reduced lung function and increased risk for chronic obstructive pulmonary disease (COPD) among smokers. METHODS: We genotyped 47,600 individuals from the adult Danish general population and recorded smoking habits, spirometry and hospital admissions due to COPD. The study and findings are limited to Danes/Europeans. MEASUREMENTS AND MAIN RESULTS: We identified 85 individuals heterozygous for the 121ins2 mutation. Smoking interacted statistically with the 121ins2 genotype in predicting FEV1%predicted(p=0.006), FVC%predicted(p=0.02) and FEV1/FVC(p=0.002), indicating that the effect of genotype differ by smoking status. Among smokers, 121ins2 heterozygotes had 9% reduced FEV1%predicted(p=0.0008), 6% reduced FVC%predicted(p=0.01) and 6% reduced FEV1/FVC(p=0.00007), compared with wildtypes. Also among smokers, 121ins2 heterozygotes had odds ratios of 2.4(95%CI 1.2-4.8) for spirometry defined COPD and of 2.2(1.0-5.1) for hospitalization due to COPD. Among never smokers, 121ins2 heterozygotes did not differ from wildtypes in lung function or risk of COPD. CONCLUSIONS: Surfactant protein-B 121ins2 heterozygosity is associated with reduced lung function and increased risk for COPD among smokers.
AB - RATIONALE: Hereditary surfactant protein-B deficiency is an autosomal recessive disorder that causes fatal respiratory distress syndrome in newborns. Seventy percent of the cases of hereditary surfactant protein-B deficiency are caused by homozygosity for the 121ins2 mutation in the surfactant protein-B gene. Individuals heterozygous for this mutation have partial absence of surfactant protein-B and could be at risk of lung disease when exposed to additional risk factors for impaired surfactant function such as tobacco smoking. OBJECTIVES: To test whether individuals heterozygous for the 121ins2 mutation have reduced lung function and increased risk for chronic obstructive pulmonary disease (COPD) among smokers. METHODS: We genotyped 47,600 individuals from the adult Danish general population and recorded smoking habits, spirometry and hospital admissions due to COPD. The study and findings are limited to Danes/Europeans. MEASUREMENTS AND MAIN RESULTS: We identified 85 individuals heterozygous for the 121ins2 mutation. Smoking interacted statistically with the 121ins2 genotype in predicting FEV1%predicted(p=0.006), FVC%predicted(p=0.02) and FEV1/FVC(p=0.002), indicating that the effect of genotype differ by smoking status. Among smokers, 121ins2 heterozygotes had 9% reduced FEV1%predicted(p=0.0008), 6% reduced FVC%predicted(p=0.01) and 6% reduced FEV1/FVC(p=0.00007), compared with wildtypes. Also among smokers, 121ins2 heterozygotes had odds ratios of 2.4(95%CI 1.2-4.8) for spirometry defined COPD and of 2.2(1.0-5.1) for hospitalization due to COPD. Among never smokers, 121ins2 heterozygotes did not differ from wildtypes in lung function or risk of COPD. CONCLUSIONS: Surfactant protein-B 121ins2 heterozygosity is associated with reduced lung function and increased risk for COPD among smokers.
U2 - 10.1164/rccm.200906-0963OC
DO - 10.1164/rccm.200906-0963OC
M3 - Journal article
C2 - 19833825
SN - 1073-449X
VL - 181
SP - 17
EP - 20
JO - American Journal of Respiratory and Critical Care Medicine
JF - American Journal of Respiratory and Critical Care Medicine
IS - 1
ER -