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Table 5 Key pathways associated with osteoporosisa

From: Genome-wide approaches for identifying genetic risk factors for osteoporosis

Genes Full names Refs
RANK/RANKL/OPG pathway   
TNFSF11 TNF (ligand) superfamily, member 11 (RANKL) [55, 56]
TNFRSF11A TNF receptor 11a, NF-κB activator (RANK) [26, 37, 55]
TNFRSF11B TNF receptor 11b (OPG) [26, 53, 56]
TNF-R1/TRAIL signaling pathway b   
CFLAR CASP8 and FADD-like apoptosis regulator [37]
NFKB1 Nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 [37]
TNFSF10 TNF (ligand) superfamily, member 10 [37]
TNFRSF1B, TNFRSF10B TNF receptors [37]
TRAF3 TNF receptor-associated factor 3 [37]
Wnt signaling pathway   
CTNNB1 Β-catenin [26, 53]
DKK1 Dickkopf-related protein 1 [33, 74]
LRP4, LRP5 Lipoprotein receptor related peptides [32, 33, 53, 56, 57]
RSPO3 R-spondin 3 [25]
SOST Sclerostin [56, 57]
WNT4, WNT15 Wnt proteins [61]
Autophagy regulation pathway   
ATG5, ATG7, ATG12 Autophagy-related proteins [36]
IFNA4, IFNA5, IFNA7, IFNA8, IFNA13, IFNA14, IFNA16, IFNA17, IFNA21, Interferon α proteins [36]
PIK3C3 Phosphatidylinositol 3-kinase catalytic subunit type 3 [36]
Other pathways   
ALDH7A1 Aldehyde dehydrogenase 7 family, member A1 [33]
ARHGAP1 Rho GTPase activating protein 1 [26, 32]
COL1A1 Collagen, type I, α1 [43, 66, 79]
DCDC5 Doublecortin domain containing 5 [26, 53]
ESR1 Estrogen receptor 1 [29, 32, 48]
FLJ42280 Putative uncharacterized protein FLJ42280 [26, 53, 55]
FOXL1 Forkhead box L1 [26, 53]
GALNT3 UDP-N-acetyl-a-d-galactosamine: polypeptide N-acetylgalactosaminyltransferase 3 [25]
HDAC5 Histone deacetylase 5 [26, 53]
JAG1 Jagged 1 (Notch ligand) [46]
MEF2C Myocyte enhancer factor 2C [26]
MEPE Matrix extracellular phosphoglycoprotein [26, 33, 53]
STARD3NL STARD3 amino-terminal like protein [26, 53]
SOX6 Sex-determining region Y-box 6 [26, 41, 51]
SP7 Sp7 transcription factor [26]
SPTBN1 Spectrin, β, non-erythrocytic 1 [26, 33, 58]
TGFBR1 TGF, β receptor I [66]
  1. aGene abbreviations: AGER, Advanced glycosylation end product-specific receptor; ALP1, Actinin-associated LIM protein; ANXA2, Annexin A2; BMP2, Bone morphogenetic protein; BSP, Binder of sperm; C6orf97, Chromosome 6 open reading frame 97; CBFA1, Core binding factor A1; CFL1, Cofilin 1; CLCN7, Chloride channel 7; COL, Collagen; COMT, Catechol-O-methyltransferase; CRYAB, α-crystallin B chain; CTSK, Cathepsin K; CXCL2, Chemokine ligand 2; CXCR4, Chemokine receptor 4; DLX5, Distal-less homeobox 5; EPHA5, Ephrin A receptor 5; Erk, Extracellular signal-regulated kinase; FAM210A, Family with sequence similarity 210A; FHL2, Four-and-a-half LIM domain; FLNA, Filamin A α; FONG, Formiminotransferase amino-terminal subdomain-containing precursor; GDIα, Rho GDP dissociation inhibitor α; GPR177, G protein-coupled receptor 177; Gprc5c, G protein-coupled receptor; GRO1, Melanoma growth stimulating activity α; Hmgb1, High mobility group protein; HMGN3, High mobility group nucleosomal binding domain 3; IBSP, Integrin-binding sialoprotein; ID4, Inhibitor of DNA binding dominant negative helix-loop-helix protein; IGF-1, Insulin-like growth factor; IL, Interleukin; IL21R, Interleukin 21 receptor; IQGAP1, IQ motif containing GTPase activating protein; LAMA, Laminin α; MMP9, Matrix metallopeptidase 9; NDN, Necdin; NOV, Nephroblastoma overexpressed; OCN, Osteocalcin; P53, P53 oncogene; phex, phosphate regulating endopeptidase homolog; PTH, Parathyroid hormone; PTN, pleiotrophin; RUNX2, Runt-related transcription factor 2; SLC25A13, Aspartate/glutamate carrier; SLPI, Secretory leukocyte peptidase inhibitor; SOCS3, Cytokine signaling suppressor 3; SOD1, Superoxide dismutase 1, soluble; SOD2, Superoxide dismutase 2, mitochondrial; SORT1, Sortilin 1; STARD3NL, STARD3 amino-terminal like gene; STAT1, Signal transducer and activator of transcription 1; TFPI2, Tissue factor pathway inhibitor; ZBTB40, Zinc finger and BTB domain containing 40. bThis pathway also includes TNFSF11, TNFRSF11A, and TNFRSF11B.