Table 6.
Gene Function and Associated Biological Categories for All the 55 Genes Identified for FVC, FEV1/FVC, or Both*
| Gene and Biological Category | Full Name | Function | |
|---|---|---|---|
| Growth factors | |||
| CSNK2B | Casein kinase 2 β | Ubiquitous protein kinase that regulates metabolic pathways, signal transduction, transcription, translation, and replication | |
| FGFR3 | Fibroblast growth factor receptor 3 | Encodes a tyrosine kinase and cell surface receptor for fibroblast growth factors | |
| FGFR4 | Fibroblast growth factor receptor 4 | Encodes a tyrosine kinase and cell surface receptor for fibroblast growth factors | |
| GSK3B | Glycogen synthase kinase 3 β | Encodes a serine-threonine kinase belonging to the glycogen synthase kinase subfamily | |
| PDGFB | Platelet-derived growth factor subunit B | Encodes a member of the protein family comprised of PDGFs | |
| ROR2 | Receptor tyrosine kinase like orphan receptor 2 | Encodes a receptor protein tyrosine kinase and a type I transmembrane protein that belongs to the ROR subfamily of cell surface receptors | |
| SFRP2 | Secreted frizzled related protein 2 | Encodes a member of the SFRP family that acts as soluble modulators of Wnt signaling | |
| TCF7L1 | Transcription factor 7–like 1 | Encodes a member of the T-cell factor/lymphoid enhancer factor family of transcription factors | |
| WNT2B | Wnt family member 2 | Member of the WNT gene family | |
| WNT7A | Wnt family member 7A | Member of the WNT gene family | |
| WNT9A | Wnt family member 9A | Member of the WNT gene family | |
| BMP4 | Bone morphogenetic protein 4 | Encodes a secreted ligand of the TGF-β (transforming growth factor β) superfamily of proteins | |
| FGF10 | Fibroblast growth factor 10 | Encodes a member of the fibroblast growth factor family with roles in morphogenesis of epithelium, reepithelialization of wounds, hair development, and early lung organogenesis | |
| FGF18 | Fibroblast growth factor 18 | Encodes a member of the fibroblast growth factor family with roles in cell growth, morphogenesis, and tissue repair and is particularly important in bone development | |
| HHIP | Hedgehog interacting protein | Encodes a member of the HHIP family, which is a highly conserved, vertebrate-specific inhibitor of HH signaling | |
| IGF1 | Insulin-like growth factor 1 | Encodes an insulin-like protein involved in mediating growth and development | |
| KDR | Kinase insert domain receptor—vascular endothelial growth factor receptor 2 | Encodes one of the two receptors of the VEGF; this receptor functions as the main mediator of VEGF-induced endothelial proliferation, survival, migration, tubular morphogenesis, and sprouting | |
| PTCH1 | Patched 1 | Encodes a member of the patched family of proteins and a component of the hedgehog signaling pathway | |
| TGFB2 | Transforming growth factor β 2 | Encodes a secreted ligand of the TGF-β superfamily of proteins | |
| Transcriptional regulators | |||
| GFI1 | Growth factor independent 1 transcriptional repressor | Encodes a nuclear zinc-finger protein that functions as a transcriptional repressor | |
| HOXA1 | Homeobox A1 | Encodes a DNA-binding transcription factor involved in spatial patterning in development | |
| HOXB4 | Homeobox B4 | Encodes a DNA-binding transcription factor involved in spatial patterning in development | |
| KAT7 | Lysine acetyltransferase 7 | Encodes a protein that is part of the multimeric HBO1 complex and possesses histone H4-specific acetyltransferase activity; this activity regulates gene transcription (e.g., VEGFR2, by influencing chromatin conformation) | |
| KAT8 | Lysine acetyltransferase 8 | Encodes a member of the MYST histone acetylase protein family; the encoded protein regulates gene transcription by influencing chromatin conformation | |
| NCOR2 | Nuclear receptor corepressor 2 | Encodes a protein that regulates repression of thyroid-hormone and retinoic-acid receptors | |
| NFATC3 | Nuclear factor of activated T cells 3 | Encodes a member of the nuclear factors of activated T cells family of transcription factors | |
| NR3C1 | Nuclear receptor subfamily 3 group C member 1 | Encodes glucocorticoid receptor | |
| PPARD | Peroxisome proliferator-activated receptor delta | Encodes a member of the PPAR family that is believed to function as an integrator of transcriptional repression and nuclear receptor signaling | |
| RARA | Retinoic acid receptor α | Encodes the retinoic acid receptor α that acts as a ligand-activated transcription factor | |
| RUNX1 | Runt-related transcription factor 1 | Encodes for a member of the runt family of transcription factors that regulate hematopoiesis and skeletal development | |
| RUNX3 | Runt-related transcription factor 3 | Encodes for a member of the runt family of transcription factors that regulate hematopoiesis and skeletal development | |
| SOX9 | SRY-box 9 | The protein encoded is an HMG box DNA-binding protein | |
| GATA6 | GATA-binding protein 6 | Member of the GATA family of transcription factors that regulate cellular differentiation and organogenesis during embryonic development | |
| NCOR1 | Nuclear receptor corepressor 1 | Encodes a protein that regulates repression of thyroid-hormone and retinoic-acid receptors | |
| RARB | Retinoic acid receptor β | Encodes the retinoic acid receptor β that acts as a ligand-activated transcription factor | |
| RUNX2 | Runt-related transcription factor 2 | Encodes for a member of the runt family of transcription factors that regulate hematopoiesis and skeletal development | |
| Cell-to-cell adhesion and cytoskeleton | |||
| ACTN3 | Actinin α 3 (gene/pseudogene) | Involved in crosslinking actin filaments, part of the cytoskeleton | |
| ACTN4 | Actinin α 4 | Actin-binding protein, part of the cytoskeleton | |
| CLDN20 | Claudin 20 | Encodes a tight junction protein; important for cell polarity and regulating movement of molecules via the paracellular route. | |
| CTNND1 | Catenin delta 1 | Armadillo protein family, which function in adhesion between cells and signal transduction | |
| FARP2 | FERM, ARH/RhoGEF, and pleckstrin domain protein 2 | ρ guanidine exchange factor | |
| GJE1 | Gap junction protein epsilon 1 | Gap junction protein; Gap junctions are specialized intercellular connections that enable cell-to-cell communication | |
| MAPRE1 | Microtubule associated protein RP/EB family member 1 | Encodes a protein that localizes to microtubules, a dynamic network of filaments that form part of the cytoskeleton | |
| DSP | Desmoplakin | Encodes a protein component of functional desmosomes | |
| PARD3 | Par-3 family cell polarity regulator | Encodes a member of the PARD protein family that regulates cell polarity and cell-to-cell integrity | |
| TNS1 | Tensin 1 | Encodes for a protein that localizes to focal adhesions and crosslinks actin filaments | |
| Extracellular matrix | |||
| ELN | Elastin | Encodes a protein that is one of the two components of elastic fibers | |
| ITGB5 | Integrin subunit β 5 | Encodes the integrin β subunit 5 protein | |
| MMP24 | Matrix metallopeptidase 24 | Encodes a member of the peptidase M10 family of MMPs | |
| SERPINC1 | Serpin family C member 1 | Encodes a plasma protease inhibitor and a member of the serpin superfamily | |
| SERPING1 | Serpin family G member 1 | Encodes a highly glycosylated plasma protein involved in the regulation of the complement cascade | |
| ITGAV | Integrin subunit α V | Encodes a member of the integrin α chain family | |
| MMP15 | Matrix metallopeptidase 15 | Encodes a member of the peptidase M10 family and membrane-type subfamily of MMPs | |
| Oxidative stress and endothelial dysfunction | |||
| AGER | Advanced glycosylation end-product (AGE) specific receptor | Multiligand receptor; role in chronic vascular injury | |
| Immune response and surfactant regulation | |||
| SFTPD | Surfactant protein D | The protein encoded is part of the innate immune response and has a role in surfactant regulation |
*
Bold formatting indicates the 36 novel genes.