Symbol | Name | Locus | Function | References for | References against |
ELN | Elastin | 7q11 | Matrix | 5–7 | |
FBLN4 | Fibulin 4 | 11q13 | Matrix | 8 | |
FBLN5 | Fibulin 5 | 14q32 | Matrix | 9 | |
FBN1 | Fibrillin | 15q21 | Matrix | 10–12 | |
ATP7A | Copper transporter | Xq13 | Matrix | 13 | |
TGFB1 | Transforming growth factor β1 (TGFβ1) | 19q13 | Matrix | 14–18 | 19 |
LTBP4 | Latent TGFβ binding protein 4 | 19q13 | Matrix | 21 | |
SERPINA1 | α1-Antitrypsin | 14q32 | Anti-protease | 23–25, 75–77 | |
SERPINE2 | Serpin E2 | 2q33 | Antiprotease | 26, 27 | 28 |
TIMP2 | Tissue inhibitor of metalloproteinase 2 | 17q25 | Antiprotease | 34 | |
MMP1 | Metalloproteinase 1 | 11q22 | Protease | 32 | 33 |
MMP9 | Metalloproteinase 9 | 20q11 | Protease | 29–31, 33 | 32 |
MMP12 | Metalloproteinase 12 | 11q22 | Protease | 32 | |
EPHX1 | Epoxide hydrolase 1 | 1q42 | Detoxification | 17, 35–42, 44, 46–48 | 43, 45 |
GST-P1 | Glutathione S-transferase P1 | 11q13 | Detoxification | 48–50 | 44, 51 |
GST-M1 | Glutathione S-transferase M1 | 1p13 | Detoxification | 37 | 45 |
HMOX1 | Heme oxygenase 1 | 22q13 | Detoxification | 38, 39, 52–55 | 50, 54 |
SOD3 | Superoxide dismutase 3 | 4p15 | Detoxification | 56, 57 | |
TNF | Tumour necrosis factor | 6p21 | Inflammation | 39, 58, 78–80 | 42, 47, 59–68 |
GC | Group specific component | 4q12 | Inflammation | 69–73 | 74 |
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.