Association between an aggrecan gene polymorphism and lumbar disc degeneration

Design. A case-control study using magnetic resonance imaging findings and a polymerase chain reaction assay to investigate the association between ag grecan gene polymorphism and lumbar disc degeneration. Objective. To analyze whether the aggrecan gene polymorphism is related to lumbar disc disease in young Summary of Background Data. It has been suggested,that agenetic factor or f amilial predisposition contributes to the development of lumbar disc hernia tion. However, the precise genetic component related to disc disease remain s unclear. Recently, a polymorphism has been identified in the region of th e human aggrecan gene. The expressed variable numbers of tandem repeat poly morphism occur in the highly conserved repeat region. Methods. The participants were 64 young women with or without low back prob lems. Magnetic resonance imaging was used to evaluate the degeneration and herniation of the intervertebral disc. Genomic deoxyribonucleic acid was ex tracted from all participants. A,polymerase chain reaction assay was carrie d out to detect the alleles of the aggrecan gene. The association of interv ertebral disc degeneration and herniation with the distribution of the aggr ecan gene alleles was analyzed. Results. Findings showed an overrepresentation of alleles with small number s of repeats in subjects with multilevel disc degeneration, thus indicating a significant distribution difference. There also was a significant differ ence between the distribution of alleles and the severity of disc degenerat ion. No significant association was found between any of the alleles either in numberer type of disc herniation. Conclusions: The current study showed that multilevel and severe disc degen eration was present in the participants with shorter variable numbers of ta ndem repeat length of the aggrecan gene. This suggests that subjects with s horter variable numbers of tandem repeat length of.. the aggrecan gene have a risk of having multilevel disc degeneration develop at an early age.