The genetics of intervertebral disc degeneration. Associated genes.
OBJECTIVE
To review current knowledge on genes associated with intervertebral disk degeneration.


METHODS
A literature-based narrative review of the English language medical literature.


CONCLUSIONS
There are a number of genes that have been associated with intervertebral disk degeneration in humans, including genes coding for collagen I, collagen IX (COL9A2 and COL9A3), collagen XI (COL11A2), IL-1, aggrecan, vitamin D receptor, MMP-3, and CILP. For specific genes and some environmental factors, gene-gene, gene-environment and gene-age interactions may exist. Candidate-gene association studies have limitations in detecting the genetic basis of the disease because this approach relies on having predicted the correct genes on the basis of a biological hypothesis or the location of known linkage regions. Additional studies, including linkage analyses and whole genome scan studies in different populations and whole range of ages, are required to improve our understanding of the influence of the aforementioned genes on intervertebral disk degeneration and identify novel genes.
Kalichman
Leonid
L
Boston University Clinical Epidemiology Research and Training Unit, University School of Medicine, 650 Albany St, Boston, MA 02118, USA. leonid@bu.edu
Hunter
David J
DJ
D002574:Cervical Vertebrae / Q000378:metabolism*; D020022:Genetic Predisposition to Disease; D006801:Humans; D007403:Intervertebral Disc / Q000378:metabolism*; D007405:Intervertebral Disc Displacement / Q000235:genetics*; D008159:Lumbar Vertebrae / Q000378:metabolism*; D012307:Risk Factors