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. Author manuscript; available in PMC: 2015 Apr 1.
Published in final edited form as: Clin Sports Med. 2014 Jan 10;33(2):199–220. doi: 10.1016/j.csm.2013.11.004

Table 3.

Genes identified from GWAS used to seed STRING network (see Figure 2).

Genes identified and reviewed were input into the STRING network. All genes included in the STRING network and a description of the genes are included.

graphic file with name nihms545077t1.jpg LAMB1 laminin, beta 1; Binding to cells via a high affinity receptor, laminin is thought to mediate the attachment, migration and organization of cells into tissues during embryonic development by interacting with other extracellular matrix components (1786 aa)
graphic file with name nihms545077t2.jpg SLC35D1 solute carrier family 35 (UDP-glucuronic acid/UDP-N-acetylgalactosamine dual transporter), member D1; Transports both UDP-glucuronic acid (UDP-GlcA) and UDP-N-acetylgalactosamine (UDP-GalNAc) from the cytoplasm to into the endoplasmic reticulum lumen. Participates in glucuronidation and/or chondroitin sulfate biosynthesis (355 aa)
graphic file with name nihms545077t3.jpg COL10A1 collagen, type X, alpha 1; Type X collagen is a product of hypertrophic chondrocytes and has been localized to presumptive mineralization zones of hyaline cartilage (680 aa)
graphic file with name nihms545077t4.jpg LGALS3 lectin, galactoside-binding, soluble, 3; Mediates with the alpha-3, beta-1 integrin the stimulation by CSPG4 of endothelial cells migration. Together with DMBT1, required for terminal differentiation of columnar epithelial cells during early embryogenesis (250 aa)
graphic file with name nihms545077t5.jpg ACAN aggrecan; This proteoglycan is a major component of extracellular matrix of cartilaginous tissues. A major function of this protein is to resist compression in cartilage. It binds avidly to hyaluronic acid via an N-terminal globular region (2416 aa)
graphic file with name nihms545077t6.jpg PTH2R parathyroid hormone 2 receptor; This is a specific receptor for parathyroid hormone. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase. PTH2R may be responsible for PTH effects in a number of physiological systems. (550 aa)
graphic file with name nihms545077t7.jpg FRZB frizzled-related protein; Soluble frizzled-related proteins (sFRPS) function as modulators of Wnt signaling through direct interaction with Wnts. They have a role in regulating cell growth and differentiation in specific cell types. SFRP3/FRZB is involved in limb skeletogenesis. Antagonist of Wnt8 signaling. Regulates chondrocyte maturation and long bone development (325 aa)
graphic file with name nihms545077t8.jpg MMP3 matrix metallopeptidase 3 (stromelysin 1, progelatinase); Can degrade fibronectin, laminin, gelatins of type I, III, IV, and V; collagens III, IV, X, and IX, and cartilage proteoglycans. Activates procollagenase (477 aa)
graphic file with name nihms545077t9.jpg COL3A1 collagen, type III, alpha 1; Collagen type III occurs in most soft connective tissues along with type I collagen (1466 aa)
graphic file with name nihms545077t10.jpg UGDH UDP-glucose dehydrogenase; Biosynthesis of glycosaminoglycans; hyaluronan, chondroitin sulfate, and heparan sulfate (494 aa)
graphic file with name nihms545077t11.jpg PTH1R parathyroid hormone 1 receptor; This is a receptor for parathyroid hormone and for parathyroid hormone-related peptide. The activity of this receptor is mediated by G proteins which activate adenylyl cyclase and also a phosphatidylinositol-calcium second messenger system (593 aa)
graphic file with name nihms545077t12.jpg COL27A1 collagen, type XXVII, alpha 1; Plays a role during the calcification of cartilage and the transition of cartilage to bone (1860 aa)
graphic file with name nihms545077t13.jpg HYAL2 hyaluronoglucosaminidase 2; Hydrolyzes high molecular weight hyaluronic acid to produce an intermediate-sized product which is further hydrolyzed by sperm hyaluronidase to give small oligosaccharides. Associates with and negatively regulates MST1R (473 aa)
graphic file with name nihms545077t14.jpg COL24A1 collagen, type XXIV, alpha 1; Participates in regulating type I collagen fibrillogenesis during fetal development (1714 aa)
graphic file with name nihms545077t15.jpg COL5A1 collagen, type V, alpha 1; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to heparan sulfate, thrombospondin, heparin, and insulin (1838 aa)
graphic file with name nihms545077t16.jpg MATN1 matrillin 1, cartilage matrix protein; A major component of the extracellular matrix of cartilage. It binds to collagen (496 aa)
graphic file with name nihms545077t17.jpg COL5A2 collagen, type V, alpha 2; Type V collagen is a member of group I collagen (fibrillar forming collagen). It is a minor connective tissue component of nearly ubiquitous distribution. Type V collagen binds to heparan sulfate, thrombospondin, heparin, and insulin. Type V collagen is a key determinant in the assembly of tissue-specific matrices (1499 aa)