Association of the asporin D14 allele with lumbar-disc degeneration in Asians.
From: American Journal of Human Genetics. 2008 Mar;82(3):744-7
Lumbar disc degeneration is a polygenic disease. Susceptibility genes reported so far are mainly extracellular matrix proteins. D14 allele of asporin (ASPN) is associated with osteoarthritis. Candidate-gene association studies showed that the D14 allele is also significantly associated with lumbar disc degeneration in Chinese and Japanese individuals. Meta-analysis showed that individuals harboring a D14 allele had higher risk with a summary odds ratio of 1.70 (p = 0.000013). ASPN expression in vertebral discs increased with age and degeneration. Our results indicate ASPN is a lumbar disc degeneration gene in Asians, and common risk factors may be considered for osteoarthritis and lumbar disc degeneration.
Lumbar disc degeneration is a major cause of low back pain. Approximately 80% of the global population experience low back pain in their life time, presenting a huge medical and economical burden to society. There is a significant genetic contribution in lumbar disc degeneration. Twin studies demonstrated 74% heritability on the basis of magnetic resonance imaging of the spine. Also, genetic association studies have identified a number of risk factors. The majority of these risk factors for lumbar disc degeneration result from changes in sequences of genes encoding extracellular matrix proteins expressed in the nucleus pulposus (inner structure) and annulus fibrosus (outer layer) of the disc, such as type IX collagen and aggrecan, and cartilage intermediate layer protein. These findings lead us to the hypothesis that lumbar disc degeneration is caused by changes in the structural integrity of the intervertebral disc.
