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Background  Mutations in  ATP-binding-cassette-member A3  ( ABCA3 ) are related to severe chronic lung disease in neonates and children, but frequency of chronic lung disease due to  ABCA3  mutations in the general population is unknown. We tested the hypothesis that individuals heterozygous for  ABCA3  mutations have reduced lung function and increased risk of COPD in the general population.    Methods  We screened 760 individuals with extreme pulmonary phenotypes and identified three novel (H86Y, A320T, A1086D) and four previously described mutations (E292V, P766S, S1262G, R1474W) in the  ABCA3  gene. We genotyped the entire Copenhagen City Heart study (n = 10,604) to assess the clinical importance of these mutations. To validate our findings we genotyped an additional 54,395 individuals from the Copenhagen General Population Study.    Results  In the Copenhagen City Heart Study individuals heterozygous for E292V had 5% reduced FEV 1  % predicted compared with noncarriers (t-test: p = 0.008), and an increased odds ratio for COPD of 1.9 (95% CI: 1.1-3.1). In contrast, the A1086D mutation was associated with increased FEV 1  % predicted (p = 0.03). None of the other  ABCA3  mutations associated with lung function or COPD risk in the Copenhagen City Heart Study. In the larger Copenhagen General Population Study, and in the two studies combined, E292V heterozygotes did not have reduced lung function or increased risk of COPD (p = 0.11-0.98), while this was the case for the positive controls,  surfactant protein-B  121ins2 heterozygotes and  α   1   -antitrypsin  ZZ homozygotes.    Conclusion  Our results indicate that partially reduced ABCA3 activity due to E292V is not a major risk factor for reduced lung function and COPD in the general population. This is an important finding as 1.3% in the Danish population has partially reduced ABCA3 function due to E292V.

Heterozygosity for E292V in ABCA3, lung function and COPD in 64,000 individuals