Analysis of causative gene for lumbar disc disease and investigation of molecular mechanism for interverteral disc degeneration

腰椎间盘疾病是年轻人中的常见问题。虽然病因尚不清楚，但已有研究表明，遗传因素有助于这些疾病的发展。最近，一些遗传多态被发现是相关的。我们研究了几种基因多态与腰椎间盘疾病之间的关系。我们前期的研究发现，aggrecan基因外显子12的可变数目串联重复序列(VtR)和维生素D受体基因(VDR)外显子9的TT多态与早期腰椎间盘退变和腰椎间盘突出症呈正相关。我们与理化学研究所(RIKEN)、庆应义乌大学和京都立大学合作收集了800多个样本。我们检查了其他候选基因，这些基因在以前的文献中被证明是因果基因，并证实在我们的样本中没有关联。然而，我们发现COL9A2单倍型与腰椎间盘疾病呈正相关。此外，我们还发现基因X有很强的关联性。X基因编码关节软骨和椎间盘的结构成分。我们还研究了该基因如何成为椎间盘疾病的致病因素的机制。包括这些结果的论文不久将发表在一些科学期刊上。

Lumbar disc diseases are common problems in the young population. Although the etiology is unknown, it has been suggested that a genetic factor contributes to the development of these diseases. Recently, some genetic polymorphisms have been found to be related. We have examined the association between several genetic polymorphisms and lumbar disc diseases. Our previous studies found that the shorter VNTR (variable number of tandem repeat) in Exon 12 of aggrecan gene and the Tt polymorphism in Exon 9 of vitamin D receptor gene (VDR gene) have the positive association with lumbar disc degeneration and disc herniation in an early age. We collected more than 800 samples in cooperation with The Institute of Physical and Chemical Research (RIKEN), Keio University and Kyoto prefectural Univerisity. We examined other candidate genes which were shown as causal genes in previous literatures and confirmed that there were no association in our samples. However, we found the positive association between the haplotype of COL9A2 and lumbar disc diseases. Further, we found that the gene X had a strong association. The gene X codes the structural component of joint cartilage and intervertebral disc. We also examined the mechanism how the gene becomes a causative factor in disc disease. The paper including these results will be published in some scientific journal soon.