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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

Î’-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.