Abstract
Disc degeneration is a condition that compromises the intervertebral disc functions,
which can lead to several important pathological processes, such as disc herniation
and canal stenosis. Although its etiology is still unknown, more and more studies
have demonstrated the preponderant role of genetic factors to the detriment of environmental
factors. Aiming to review the current knowledge about the genes associated with intervertebral
disc degeneration, we have performed a narrative review based on the medical literature
in the English language from the last 10 years regarding this subject. We have concluded
that several genes have been associated with disc degeneration in humans, including
the genes for collagen I α-1 (COL1A1), collagen IX (COL9A2 and COL9A3), collagen XI (COL11A2), interleukin 6 (IL-6), aggrecan (AGC1), vitamin D receptor (VDR), and matrix metalloproteinase 3 (MMP-3), in addition to microRNAs. Therefore, the present review emphasizes the latest advancements
in the association of genes with specific phenotypes of degenerated discs, single-nucleotide
polymorphisms, heritage and genetic-environmental interactions in relation to disc
degeneration to help future reviews regarding the genetic mechanisms underlying these
processes.
Keywords
intervertebral disc degeneration - intervertebral disc - genetics - polymorphism,
genetic
