title: Genetic susceptibility.
abstract: Why only 20% of smokers develop clinically relevant chronic obstructive pulmonary disease (COPD) was a puzzle for many years. Now, epidemiologic studies point clearly toward a large heritable component. The combination of genome-wide association studies and candidate gene analysis is helping to identify those genetic variants responsible for an individual's susceptibility to developing COPD. In this review, the current data implicating specific loci and genes in the pathogenesis of COPD are examined.
authors: Division of Respiratory Medicine, Department of Medicine, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK; Cambridge Institute for Medical Research (CIMR), University of Cambridge, Wellcome Trust/MRC Building, Hills Road, Cambridge CB2 0XY, UK. Electronic address: sjm20@cam.ac.uk.
authors: Stefan J
authors: SJ
authors: Marciniak
authors: University College London, 1st Floor, Maple House, 149 Tottenham Court Road, London W1T 7NF, UK.
authors: David A
authors: DA
authors: Lomas
mesh_terms: D004198:Disease Susceptibility; D004549:Elastin / Q000235:genetics; D005109:Extracellular Matrix / Q000502:physiology; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D006801:Humans; D009154:Mutation; D010447:Peptide Hydrolases / Q000502:physiology; D011480:Protease Inhibitors; D029424:Pulmonary Disease, Chronic Obstructive / Q000235:genetics*; D017382:Reactive Oxygen Species / Q000009:adverse effects; D000515:alpha 1-Antitrypsin / Q000235:genetics
chemical_list: D011480:Protease Inhibitors; D017382:Reactive Oxygen Species; D000515:alpha 1-Antitrypsin; D004549:Elastin; D010447:Peptide Hydrolases
keywords: COPD; Emphysema; GWAS; Genetics; SNP