Genome-wide Association Study Identifies BICD1 as a Susceptibility Gene for Emphysema

X. Kong*, M.H. Cho, W. Anderson, H.O. Coxson, N. Muller, G. Washko, E.A. Hoffman, P. Bakke, A. Gulsvik, D.A. Lomas, E.K. Silverman, S.G. Pillai, (incl. E. Wouters) ECLIPSE Investigators

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


RATIONALE: chronic obstructive pulmonary disease (COPD), characterized by airflow limitation, is a disorder with high phenotypic and genetic heterogeneity. Pulmonary emphysema is a major but variable component of COPD; familial data suggest that different components of COPD, such as emphysema, may be influenced by specific genetic factors. OBJECTIVES: to identify genetic determinants of emphysema assessed through high-resolution chest computed tomography in individuals with COPD. METHODS: we performed a genome-wide association study (GWAS) of emphysema determined from chest computed tomography scans with a total of 2,380 individuals with COPD in three independent cohorts of white individuals from (1) a cohort from Bergen, Norway, (2) the Evaluation of COPD Longitudinally to Identify Predictive Surrogate Endpoints (ECLIPSE) Study, and (3) the National Emphysema Treatment Trial (NETT). We tested single-nucleotide polymorphism associations with the presence or absence of emphysema determined by radiologist assessment in two of the three cohorts and a quantitative emphysema trait (percentage of lung voxels less than -950 Hounsfield units) in all three cohorts. MEASUREMENTS AND MAIN RESULTS: we identified association of a single-nucleotide polymorphism in BICD1 with the presence or absence of emphysema (P = 5.2 x 10(-7) with at least mild emphysema vs. control subjects; P = 4.8 x 10(-8) with moderate and more severe emphysema vs. control subjects). CONCLUSIONS: our study suggests that genetic variants in BICD1 are associated with qualitative emphysema in COPD. Variants in BICD1 are associated with length of telomeres, which suggests that a mechanism linked to accelerated aging may be involved in the pathogenesis of emphysema. Clinical trial registered with (NCT00292552).
Original languageEnglish
Pages (from-to)43-49
JournalAmerican Journal of Respiratory and Critical Care Medicine
Issue number1
Publication statusPublished - 1 Jan 2011


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