American journal of respiratory and critical care medicine
-
Am. J. Respir. Crit. Care Med. · Aug 2014
Multicenter Study Clinical TrialGenome-Wide Association Identifies Regulatory Loci Associated with Distinct Local Histogram Emphysema Patterns.
Emphysema is a heritable trait that occurs in smokers with and without chronic obstructive pulmonary disease. Emphysema occurs in distinct pathologic patterns, but the genetic determinants of these patterns are unknown. ⋯ This study demonstrates for the first time genetic associations with distinct patterns of pulmonary emphysema quantified by computed tomography scan. Enhancer regions are significantly enriched among these GWAS results, with pulmonary fibroblasts among the cell types showing the strongest enrichment.