Department of Spine Surgery, The First Affiliated Hospital (Hunan Provincial People's Hospital), Hunan Normal University, Changsha, Hunan 410005, People's Republic of China; Department of Spine Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China.
Department of Spine Surgery, Xiangya Hospital, Central South University, Changsha, Hunan 410008, People's Republic of China.
J Clin Neurosci. 2017 Oct;44:89-94. doi: 10.1016/j.jocn.2017.06.043. Epub 2017 Jul 19.
Cervical spondylotic myelopathy (CSM) is a degenerative disorder of the neck. Recent studies have reported the roles of single nucleotide polymorphisms and abnormal gene expression in the etiology and development of CSM. However, a systemic review of these findings is currently unavailable.
A systemic review of genetic factors of CSM was conducted through searching PubMed and EMbase databases. A total of 9 studies were included in this study, which included 8 genes: brain derived neurotrophic factor (BDNF), osteopontin (OPN), bone morphogenic protein (BMP) 4, collagen IX, vitamin D receptor (VDR), apolipoprotein E (ApoE), hypoxia-inducible factor α (HIF-1α), and cyclooxygenase 2 (COX-2).
The polymorphisms of 6 genes (OPN, BMP-4, collagen IX, VDR, HIF-1α) showed significant association with the susceptibility to or risk of CSM. The polymorphisms of 3 genes (BMP-4, ApoE4, HIF-1α) were significantly associated with the postoperative outcome. The polymorphism of BDNF, VDR, and expression of COX-2 were associated with the severity of disease.
This review demonstrates that 8 genes were associated with CSM although there is no repeated study. This review also suggests that large scale and high quality studies are needed to provide more reliable evidence for future evaluation.
颈椎脊髓病(CSM)是一种颈部退行性疾病。最近的研究报告了单核苷酸多态性和异常基因表达在 CSM 的病因和发展中的作用。然而,目前还没有对这些发现进行系统评价。
通过搜索 PubMed 和 EMbase 数据库,对 CSM 的遗传因素进行了系统评价。共有 9 项研究纳入本研究,共涉及 8 个基因:脑源性神经营养因子(BDNF)、骨桥蛋白(OPN)、骨形态发生蛋白 4(BMP-4)、胶原 IX、维生素 D 受体(VDR)、载脂蛋白 E(ApoE)、缺氧诱导因子 1α(HIF-1α)和环氧化酶 2(COX-2)。
6 个基因(OPN、BMP-4、胶原 IX、VDR、HIF-1α)的多态性与 CSM 的易感性或风险显著相关。3 个基因(BMP-4、ApoE4、HIF-1α)的多态性与术后结果显著相关。BDNF、VDR 的多态性和 COX-2 的表达与疾病的严重程度有关。
尽管没有重复研究,但本综述表明 8 个基因与 CSM 有关。这也表明需要进行大规模和高质量的研究,为未来的评估提供更可靠的证据。