Association of the Polymorphisms of Vitamin D Receptor and Aggrecan Genes with Degenerative Disc Disease.
From: Genet Test Mol Biomarkers. 2010 Mar 31. [Epub ahead of print]
The aim of this study was to investigate the association between the polymorphisms of vitamin D receptor and aggrecan genes and degenerative disc disease in young Turkish patients. Aggrecan and vitamin D receptor proteins are the main components of bone and cartilage. In our study, the polymorphisms of vitamin D receptor and aggrecan genes were investigated in a total of 300 individuals regarding disc degeneration and herniation.
An association was found in the patients having vitamin D receptor gene TT, Tt, FF, and Ff genotypes with the protrusion type of disc herniation, whereas the patients having tt and ff genotypes were associated with extrusion/sequestration types of the disease. Also, an association was observed between TT and FF genotypes of vitamin D receptor gene and mild forms of disc degeneration; and tt, ff, and Ff genotypes and severe forms of the disease. There was also an association between shorter, normal, and longer alleles of the aggrecan gene and a protrusion type of disc herniation. An association was found between short alleles and multilevel and severe disc degeneration, as well as normal and long alleles and mild disc degeneration. This study revealed that the polymorphisms of vitamin D receptor and aggrecan genes are associated with disc degeneration and herniation.
The Journal of Bone and Joint Surgery (American) 84:2022-2028 (2002)
“This study revealed that the Tt allele of the vitamin-D receptor gene was more frequently associated with multilevel and severe disc degeneration and disc herniation than was the TT allele, pointing to an increased risk of disc disease at an early age in subjects with the Tt allele in the vitamin-D receptor gene.”
Spine: 1 December 1999 – Volume 24 – Issue 23 – p 2456
“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.”