Table 1 Candidate COPD genes
SymbolNameLocusFunctionReferences forReferences against
ELNElastin7q11Matrix5–7
FBLN4Fibulin 411q13Matrix8
FBLN5Fibulin 514q32Matrix9
FBN1Fibrillin15q21Matrix10–12
ATP7ACopper transporterXq13Matrix13
TGFB1Transforming growth factor β1 (TGFβ1)19q13Matrix14–1819
LTBP4Latent TGFβ binding protein 419q13Matrix21
SERPINA1α1-Antitrypsin14q32Anti-protease23–25, 75–77
SERPINE2Serpin E22q33Antiprotease26, 2728
TIMP2Tissue inhibitor of metalloproteinase 217q25Antiprotease34
MMP1Metalloproteinase 111q22Protease3233
MMP9Metalloproteinase 920q11Protease29–31, 3332
MMP12Metalloproteinase 1211q22Protease32
EPHX1Epoxide hydrolase 11q42Detoxification17, 35–42, 44, 46–4843, 45
GST-P1Glutathione S-transferase P111q13Detoxification48–5044, 51
GST-M1Glutathione S-transferase M11p13Detoxification3745
HMOX1Heme oxygenase 122q13Detoxification38, 39, 52–5550, 54
SOD3Superoxide dismutase 34p15Detoxification56, 57
TNFTumour necrosis factor6p21Inflammation39, 58, 78–8042, 47, 59–68
GCGroup specific component4q12Inflammation69–7374
  • Candidate genes are shown with their chromosomal location and putative function. References supporting an involvement in COPD are listed in the “For” column and references not supporting involvement are listed in the “Against” column.