Identification of susceptibility gene for lumbar disc disease and clarification of its molecular pathogenesis

我们与日本的脊柱外科专家合作，从腰椎间盘突出症（LDH）患者中收集了约1600个样本。详细分析其临床和影像学表型，建立LDH临床数据库。利用这些样本和数据，我们进行了各种遗传分析（基于表达谱和计算机预测的候选基因方法，以及全基因组关联研究），并确定了几个高度相关的LDH易感性SNP，包括涉及椎间盘发育和蛋白多糖代谢的基因。

In collaboration with expert spinal surgeons in Japan, we collected～ 1, 600 samples from patients with lumbar disc herniation(LDH). We analyzed their clinical and radiographic phenotypes in detail and established clinical database for LDH. Using these samples and data, we performed various genetic analyses(candidate gene approach based on expression profile and computer-prediction, and genome-wide association study) and identified several highly associated SNPs for LDH susceptibility, including those in genes involved in development of vertebral disc and proteoglycan metabolism.