Table 1.
List of genes associated with chronic obstructive pulmonary disease
| Symbol | Name | Chromosome | References | |||
|---|---|---|---|---|---|---|
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| Single studies | Meta-analyses | |||||
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| Positive | Negative | Positive | Negative | |||
| A2M | Alpha-2-macroglobulin | 12 | 51 | |||
| ABCC1 | ATP-binding cassette, sub-family C (CFTR/MRP), member 1 | 16 | 52–54 | |||
| ACE | Angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 | 17 | 55–60 | 61,62 | 5 | |
| ADAM33 | ADAM metallopeptidase domain 33 | 20 | 63–68 | 69,70 | ||
| ADRB2 | Adrenergic, beta-2-, receptor, surface | 5 | 71–82 | 83 | 5,83 | |
| ALOX5AP | Arachidonate 5-lipoxygenase-activating protein | 13 | 84 | |||
| AQP5 | Aquaporin 5 | 12 | 85,86 | |||
| BCL2 | B-cell CLL/lymphoma 2 | 18 | 87 | |||
| BDKRB2 | Bradykinin receptor B2 | 14 | 88 | |||
| CASP10 | Caspase 10, apoptosis-related cysteine peptidase | 2 | 89 | |||
| CAT | Catalase | 11 | 90 | 91,92 | ||
| CCL5 (RANTES) | Chemokine (C-C motif) ligand 5 | 17 | 93 | 79 | ||
| CCR2 | Chemokine (C-C motif) receptor 2 | 3 | 94 | |||
| CD14 | CD14 molecule | 5 | 95,96 | |||
| CD40 | CD40 molecule, TNF receptor superfamily member 5 | 20 | 97 | |||
| CD63 | CD63 molecule | 12 | 98 | |||
| CD86 | CD86 molecule | 3 | 99 | |||
| CDC6 | Cell division cycle 6 homolog (S cerevisiae) | 17 | 100 | |||
| CDKN1A (p21) | Cyclin-dependent kinase inhibitor 1A (p21, Cip1) | 6 | 101 | |||
| CFTR | Cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) | 7 | 102–108 | 109,110 | ||
| CHI3L1 | Chitinase 3-like 1 (cartilage glycoprotein-39) | 1 | 111 | |||
| CHRNA3 | Cholinergic receptor, nicotinic, alpha 3 (neuronal) | 15 | 26,30,31, 112,113 | |||
| CHRNA5 | Cholinergic receptor, nicotinic, alpha 5 (neuronal) | 15 | 26,30,31, 112,113 | |||
| CLCA1 | Chloride channel accessory 1 | 1 | 114 | |||
| COL4A3 | Collagen, type IV, alpha 3 (Goodpasture antigen) | 2 | 115 | |||
| CRP | C-reactive protein, pentraxin-related | 1 | 116 | 117–119 | ||
| CSF2 | Colony stimulating factor 2 (granulocyte-macrophage) | 5 | 120 | 121 | ||
| CSF3 | Colony stimulating factor 3 (granulocyte) | 17 | 121 | |||
| CTLA4 | Cytotoxic T-lymphocyte-associated protein 4 | 2 | 99,122,123 | |||
| CTSS | Cathepsin S | 1 | 124 | |||
| CYBA | Cytochrome b-245, alpha polypeptide | 16 | 125 | |||
| CYP1A1 | Cytochrome P450, family 1, subfamily A, polypeptide 1 | 15 | 125–128 | 129,130 | ||
| CYP1A2 | Cytochrome P450, family 1, subfamily A, polypeptide 2 | 15 | 129,131 | 125,128 | ||
| CYP2E1 | Cytochrome P450, family 2, subfamily E, polypeptide 1 | 10 | 127,132 | 130 | ||
| CYP2F1 | Cytochrome P450, family 2, subfamily F, polypeptide 1 | 19 | 133 | |||
| CYP3A5 | Cytochrome P450, family 3, subfamily A, polypeptide 5 | 7 | 134 | |||
| DEFB1 | Defensin, beta 1 | 8 | 135,136 | 137 | ||
| DEFB4A | Defensin, beta 4A | 8 | 138 | |||
| EDN1 | Endothelin 1 | 6 | 139–141 | 142,143 | ||
| EDNRB | Endothelin receptor type B | 13 | 143 | |||
| ELN | Elastin (supravalvular aortic stenosis, Williams–Beuren syndrome) | 7 | 144,145 | 146,147 | ||
| EPHX1 | Epoxide hydrolase 1, microsomal (xenobiotic) | 1 | 77,83,130, 146–167 | 127,168–174 | 175 | 5,8,176 |
| ESR1 | Estrogen receptor 1 | 6 | 177 | |||
| FAM13A | Family with sequence similarity 13, member A | 4 | 26 | |||
| FGF10 | Fibroblast growth factor 10 | 5 | 178 | |||
| GC | Group-specific component (vitamin D binding protein) | 4 | 179–186 | 146,147,151, 155,187 | ||
| GCLC | Glutamate-cysteine ligase, catalytic subunit | 6 | 188 | 172,189 | ||
| GCLM | Glutamate-cysteine ligase, modifier subunit | 1 | 190 | 172,188 | ||
| GSTCD | Glutathione S-transferase, C-terminal domain containing | 4 | 191 | |||
| GSTM1 | Glutathione S-transferase M1 | 1 | 127,148,161, 164,165, 192–202 | 90,130,146,147, 151,169,203–206 | 5,7,8 | |
| GSTO1 | Glutathione S-transferase omega 1 | 10 | 207 | |||
| GSTO2 | Glutathione S-transferase omega 2 | 10 | 207 | |||
| GSTP1 | Glutathione S-transferase pi 1 | 11 | 77,90,146, 148,151,152, 157,164,165, 193,194,196, 204,208–210 | 69,127,130,147, 149,159,171,185, 197,203,211,212 | 8,213 | 5,214 |
| GSTT1 | Glutathione S-transferase theta 1 | 22 | 127,165,193, 196–198, 204–206 | 90,130,148,161, 164,169,194, 199–201,203 | 5,7,8 | |
| HCK | Hemopoietic cell kinase | 20 | 215 | |||
| HHIP | Hedgehog interacting protein | 4 | 26,191,216 | |||
| HLA | Classical class 11 subregion of the MHC | 6 | 217,218 | 219,220 | ||
| HMOX1 | Heme oxygenase (decycling) 1 | 22 | 130,151,166, 221–224 | 69,147,185, 196,225 | ||
| HTR4 | 5-hydroxytryptamine (serotonin) receptor 4 | 5 | 191 | |||
| IFNG | Interferon, gamma | 12 | 226–228 | |||
| IL1A | Interleukin 1, alpha | 2 | 227 | |||
| IL1B | Interleukin 1, beta | 2 | 227,229–233 | 120,228, 234–238 | 5,8 | |
| IL1RN | Interleukin 1 receptor antagonist | 2 | 231,232, 234,235 | 228,230, 236–238 | 8 | |
| IL2 | Interleukin 2 | 4 | 227 | |||
| IL27 | Interleukin 27 | 16 | 239 | |||
| IL4 | Interleukin 4 | 5 | 71,227,240 | 120,241,242 | 5 | |
| IL4R | Interleukin 4 receptor | 16 | 227,243 | 79,241 | ||
| IL5 | Interleukin 5 (colony-stimulating factor, eosinophil) | 5 | 244 | |||
| IL6 | Interleukin 6 | 7 | 118,228,234, 245–247 | 116,233, 236,248 | 5,8 | |
| IL8 | Interleukin 8 | 4 | 120 | 234,235,238, 249,250 | ||
| IL8RA | Interleukin 8 receptor, alpha | 2 | 251 | 120,146,147 | ||
| IL8RB (CXCR2) | Interleukin 8 receptor, beta | 2 | 250 | 120,146,147 | ||
| IL10 | Interleukin 10 | 1 | 149,227,235, 248,252–254 | 120,234,255 | ||
| IL12B | Interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) | 5 | 227 | 239 | ||
| IL13 | Interleukin 13 | 5 | 79,241,242, 256–261 | 71,120,238, 243,262 | 5 | |
| IL13RA1 | Interleukin 13 receptor, alpha 1 | X | 241 | |||
| IL17F | Interleukin 17F | 6 | 263 | |||
| IREB2 | Iron-responsive element binding protein 2 | 15 | 26,30,47 | |||
| KCNMB1 | Potassium large conductance calcium-activated channel, subfamily M, beta member 1 | 5 | 264 | |||
| KEAP1 | Kelch-like ECH-associated protein 1 | 19 | 265 | |||
| LEP | Leptin | 7 | 266 | |||
| LEPR | Leptin receptor | 1 | 267 | |||
| LTA | Lymphotoxin alpha (TNF superfamily, member 1) | 6 | 234,268–272 | 120,233,248, 273–275 | 5 | |
| LTA4H | Leukotriene A4 hydrolase | 12 | 84 | |||
| LTBP4 | Latent transforming growth factor beta binding protein 4 | 19 | 146,147 | |||
| MBL2 | Mannose-binding lectin (protein C) 2, soluble | 10 | 276,277 | |||
| MICB | MHC class I polypeptide-related sequence B | 6 | 278 | |||
| MIR196A2 | MicroRNA 196a-2 | 12 | 279 | |||
| MIR499A | MicroRNA 499a | 20 | 279 | |||
| MMP1 | Matrix metallopeptidase 1 (interstitial collagenase) | 11 | 146,280,281 | 69,128,147, 151,282–285 | ||
| MMP2 | Matrix metallopeptidase 2 (gelatinase A, 72 kDa gelatinase, 72 kDa type IV collagenase) | 16 | 285 | 69,281 | ||
| MMP3 | Matrix metallopeptidase 3 (stromelysin 1, progelatinase) | 11 | 286 | 128,287 | ||
| MMP9 | Matrix metallopeptidase 9 (gelatinase B, 92 kDa gelatinase, 92 kDa type IV collagenase) | 20 | 128,202,281, 282,284, 288–290 | 69,147,151, 280,283,285,287 | 5,8 | |
| MMP12 | Matrix metallopeptidase 12 (macrophage elastase) | 11 | 280,283, 291,292 | 69,146,147, 282,284, 285,287 | ||
| MMP14 | Matrix metallopeptidase 14 (membrane-inserted) | 14 | 293 | |||
| MSR1 | Macrophage scavenger receptor 1 | 8 | 137,294 | |||
| NAT2 | N-acetyltransferase 2 (arylamine N-acetyltransferase) | 8 | 132 | |||
| NFE2L2 | Nuclear factor (erythroid-derived 2)-like 2 | 2 | 265,295 | |||
| NFKBIB | Nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta | 19 | 185 | |||
| NOS3 | Nitric oxide synthase 3 (endothelial cell) | 7 | 57,62, 296,297 | 149 | ||
| NQO1 | NAD(P)H dehydrogenase, quinone 1 | 16 | 90 | |||
| NR3C1 | Nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor) | 5 | 298 | 299 | ||
| OGG1 | 8-oxoguanine DNA glycosylase | 3 | 300 | 189 | ||
| OR4X1 | Olfactory receptor, family 4, subfamily X, member 1 | 11 | 301 | |||
| PDE4D | Phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, drosophila) | 5 | 302 | |||
| PLAUR | Plasminogen activator, urokinase receptor | 19 | 303,304 | |||
| PPARG | Peroxisome proliferator-activated receptor gamma | 3 | 163 | |||
| PTEN | Phosphatase and tensin homolog | 10 | 14 | |||
| PTGDR | Prostaglandin D2 receptor (DP) | 14 | 305 | |||
| PTGS2 (COX2) | Prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | 1 | 306,307 | |||
| SERPINA1 | Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 | 14 | 76,308–325 | 326–336 | ||
| SERPINA3 | Serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 | 14 | 337–343 | 146,147,149, 151,310,314, 326,332,344 | 5 | |
| SERPINE2 | Serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 | 2 | 77,146,149, 326,345–348 | 147,152,171, 349,350 | ||
| SFTPA1 | Surfactant protein A1 | 10 | 69,351 | |||
| SFTPA2 | Surfactant protein A2 | 10 | 69 | |||
| SFTPB | Surfactant protein B | 2 | 147,151,171, 351–354 | 69,77,146, 149,152,355 | ||
| SFTPC | Surfactant protein C | 8 | 356 | 357 | ||
| SFTPD | Surfactant protein D | 10 | 69,358,359 | 151,351 | ||
| SIRT2 | Sirtuin 2 | 19 | 185 | |||
| SLC6A4 | Solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 | 17 | 360 | |||
| SLC11A1 | Solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 | 2 | 361 | |||
| SMAD3 | SMAD family member 3 | 15 | 362 | |||
| SMOC2 | SPARC related modular calcium binding 2 | 6 | 363 | |||
| SOD2 | Superoxide dismutase 2, mitochondrial | 6 | 364–366 | 91,92,271 | 8 | |
| SOD3 | Superoxide dismutase 3, extracellular | 4 | 90,91,364, 367–370 | 5 | 8 | |
| SOX5 | SRY (sex determining region Y)-box 5 | 12 | 371 | |||
| STAT1 | Signal transducer and activator of transcription 1, 91 kDa | 2 | 185 | |||
| STAT3 | Signal transducer and activator of transcription 3 (acute-phase response factor) | 17 | 372 | |||
| STAT6 | Signal transducer and activator of transcription 6, interleukin-4 induced | 12 | 79 | 241 | ||
| STIP1 | Stress-induced-phosphoprotein 1 | 11 | 373 | |||
| TBXA2R | Thromboxane A2 receptor | 19 | 244,374 | |||
| TGFB1 | Transforming growth factor, beta 1 | 19 | 69,77,146, 147,238, 375–382 | 30,149,151, 171,383 | 5,8 | 384 |
| TGFBR3 | Transforming growth factor, beta receptor III | 1 | 190 | |||
| TIMP1 | TIMP metallopeptidase inhibitor 1 | X | 285 | 69 | ||
| TIMP2 | TIMP metallopeptidase inhibitor 2 | 17 | 146,385,386 | 147,151,387 | 5 | |
| TLR4 | Toll-like receptor 4 | 9 | 388,389 | 96,271 | ||
| TNF | Tumor necrosis factor (TNF superfamily, member 2) | 6 | 11,149,151, 234,238,250, 262,268, 270–272, 390–398 | 83,120,146, 147,155,230, 233,235–237, 248,269, 273–275, 399–403 | 5,8–11 | |
| TNS1 | Tensin 1 | 2 | 191 | |||
| TP53 (p53) | Tumor protein p53 | 17 | 101,307 | |||
| TRPV4 | Transient receptor potential cation channel, subfamily V, member 4 | 12 | 404 | |||
| TSLP | Thymic stromal lymphopoietin | 5 | 405 | |||
| VDR | Vitamin D (1,25-dihydroxyvitamin D3) receptor | 12 | 406–408 | 409 | ||
| VEGFA | Vascular endothelial growth factor A | 6 | 410 | 411 | ||
| XRCC1 | X-ray repair complementing defective repair in Chinese hamster cells 1 | 19 | 300 | |||
| XRCC5 | X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) | 2 | 412 | |||