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. 2016 Apr 23;3(3):171–177. doi: 10.1016/j.gendis.2016.04.006

Table 2.

Extracellular matrix and matrix-modifying gene polymorphisms associated with intervertebral disc degeneration.

Protein (Gene) Disc degeneration or pain Increase in pathology, or protective References
Collagen IX (COL9A2) Disc degeneration and radicular pain Increase Annunen et al, Seki et al and Knoeringer et al28, 29, 30
Collagen IX (COL9A3) Disc degeneration Increase Paassilta et al and Toktas et al31, 32
Collagen XI (COL11A1) Disc degeneration Increase Mio et al33
Collagen XI (COL11A2) Disc degeneration Protective Noponen-Hietala et al34
Collagen I (COL1A1) Disc degeneration and osteoporosis Increase Toktas et al and Pluijm et al32, 35
Aggrecan (ACAN) Disc degeneration Increase with short variable number of tandem repeats Solovieva et al and Kawaguchi et al36, 37
Cartilage intermediate layer protein (CILP) Disc degeneration Increase Seki et al38
Asporin (ASPN) Disc degeneration Increase Song et al39
Thrombospondin2 (THBS2) Disc Herniation Increase Hirose et al40
Vitamin D Receptor (VDR) Disc degeneration and osteoporosis Increase Toktas et al, Videman et al and Kawaguchi et al32, 41, 42
Carbohydrate sulfotransferase 3 (CHST3) Disc degeneration Increase Song et al43
Growth Differentiation Factor 5 (GDF5) Disc degeneration Increase Williams et al and Mu et al44, 45