Association between an aggrecan gene polymorphism and lumbar disc degeneration

Spine (Phila Pa 1976). 1999 Dec 1;24(23):2456-60. doi: 10.1097/00007632-199912010-00006.


Study design: A case-control study using magnetic resonance imaging findings and a polymerase chain reaction assay to investigate the association between aggrecan gene polymorphism and lumbar disc degeneration.

Objective: To analyze whether the aggrecan gene polymorphism is related to lumbar disc disease in young women.

Summary of background data: It has been suggested that a genetic factor or familial predisposition contributes to the development of lumbar disc herniation. However, the precise genetic component related to disc disease remains unclear. Recently, a polymorphism has been identified in the region of the human aggrecan gene. The expressed variable numbers of tandem repeat polymorphism occur in the highly conserved repeat region.

Methods: The participants were 64 young women with or without low back problems. Magnetic resonance imaging was used to evaluate the degeneration and herniation of the intervertebral disc. Genomic deoxyribonucleic acid was extracted from all participants. A polymerase chain reaction assay was carried out to detect the alleles of the aggrecan gene. The association of intervertebral disc degeneration and herniation with the distribution of the aggrecan gene alleles was analyzed.

Results: Findings showed an overrepresentation of alleles with small numbers of repeats in subjects with multilevel disc degeneration, thus indicating a significant distribution difference. There also was a significant difference between the distribution of alleles and the severity of disc degeneration. No significant association was found between any of the alleles either in number or type of disc herniation.

Conclusions: The current study showed that multilevel and severe disc degeneration was present in the participants with shorter variable numbers of tandem repeat length of the aggrecan gene. This suggests that subjects with shorter variable numbers of tandem repeat length of the aggrecan gene have a risk of having multilevel disc degeneration develop at an early age.

MeSH terms

  • Adult
  • Aggrecans
  • Alleles
  • Extracellular Matrix Proteins*
  • Female
  • Humans
  • Intervertebral Disc / pathology
  • Intervertebral Disc / physiopathology*
  • Lectins, C-Type
  • Lumbar Vertebrae / pathology
  • Lumbar Vertebrae / physiopathology*
  • Magnetic Resonance Imaging
  • Polymerase Chain Reaction
  • Polymorphism, Genetic / genetics*
  • Proteoglycans / genetics*


  • Aggrecans
  • Extracellular Matrix Proteins
  • Lectins, C-Type
  • Proteoglycans