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• W2100074859 abstract "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 × 10−7 with at least mild emphysema vs. control subjects; P = 4.8 × 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 www.clinicaltrials.gov (NCT00292552)." @default.
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• W2100074859 date "2011-01-01" @default.
• W2100074859 modified "2023-10-18" @default.
• W2100074859 title "Genome-wide Association Study Identifies <i>BICD1</i> as a Susceptibility Gene for Emphysema" @default.
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• W2100074859 doi "https://doi.org/10.1164/rccm.201004-0541oc" @default.
• W2100074859 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3040393" @default.
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