(iv) Genetics of disc degeneration

SummaryLow back pain from Degenerative Disc Disease (DDD) is a common disorder, affecting quality of life and presenting a significant burden to industrialized societies. While DDD has been attributed to the accumulation of environmental factors imposed on the “normal” aging changes, studies have shown that the effects are modest. In fact, twin and familial aggregation studies have indicated a significant genetic contribution. Indeed, this is supported by the subsequent identification of genetic risk factors for DDD such as Vitamin D Receptor (VDR), Collagen IX (COL9A2 and COL9A3), collagen XI (COL11A1), Aggrecan (AGC1), Cartilage Intermediate Layer Protein (CILP), Asporin (ASPN) and Matrix MetalloProteinases (MMP2 and MMP3). A significant number of these are ExtraCellular Matrix (ECM) components of the disc, or genes that modulate their function. This review discusses the findings from the perspective of biological processes, which suggests that ECM homeostasis is important for proper disc function.