聚集蛋白代谢通路基因多态性与腰椎间盘突出严重程度的相关性  

Association between polymorphism of aggregate protein metabolic pathway gene and severity of lumbar disc herniation

作　　者：杨金丰 马三辉 Yang Jinfeng;Ma Sanhui(Department of Orthopedics,People’s Hospital of Dingzhou,Dingzhou 073000,HebeiProvince,China)

机构地区：[1]定州市人民医院骨科

出　　处：《中国组织工程研究》2019年第31期4939-4944,共6页Chinese Journal of Tissue Engineering Research

基　　金：河北省卫生厅科研基金项目(20181772),项目负责人:杨金丰~~

摘　　要：背景:椎间盘突出是一种复杂的脊柱疾病,与椎间盘退变密切相关,而聚集蛋白聚糖的代谢途径的候选基因可能与腰椎间盘突出的严重程度相关。目的:评估单核苷酸变异和慢性机械性腰痛患者腰椎间盘突出严重程度的蛋白聚糖的代谢途径的基因的关联。方法:对60例慢性机械性腰痛患者进行了分类描述研究。T2加权正中矢状位腰椎MRI扫描评估椎间盘突出和椎间盘退变的严重程度。对凝集素代谢途径的2个候选基因(蛋白聚糖和基质金属蛋白酶3)的20个外显子单核苷酸变异进行了基因分型。对年龄、性别、体质量指数和椎间盘退变程度进行多元线性回归分析。试验于2015-03-01经定州市人民医院伦理委员会批准(批准号2015002)。结果与结论:蛋白聚糖的rs2272023、rs938609、rs2882676、rs698621、rs3825994、rs1042630和rs3817428突变体及其单倍型与腰椎间盘突出的严重程度有关。若要确定这些重要的单核苷酸变异在椎间盘突出症的发病机制中的作用,有必要进行功能遗传方面的研究。BACKGROUND: Protrusion of intervertebral disc is a complex spinal disease, which is closely related to the degeneration of intervertebral disc. Candidate genes of aggregation proteoglycan metabolic pathway may be related to the severity of protrusion of lumbar intervertebral disc.OBJECTIVE: To assess the association between single nucleotide variants and proteoglycan metabolic pathways in the severity of lumbar disc herniation in patients with chronic mechanical low back pain.METHODS: Sixty patients were classified and described. T2-weighted median sagittal lumbar MRI scans were used to assess the severity of disc herniation and degeneration. Single nucleotide variants genotyping of 20 exons of two candidate genes(proteoglycan, matrix metalloproteinase 3) of lectin metabolic pathway was performed. Age, sex, body mass index and the degree of intervertebral disc degeneration were analyzed by multiple linear regression. The trial was approved by the Ethics Committee of People’s Hospital of Dingzhou on March 1, 2015(approval No. 2015002).RESULTS AND CONCLUSION: The mutants and haplotypes of rs2272023, rs938609, rs2882676, rs698621, rs3825994, rs1042630 and rs3817428 of proteoglycan are related to the severity of lumbar disc herniation. The single nucleotide variants and its haplotype of proteoglycan are related to the severity of lumbar disc herniation. To determine the role of these important single nucleotide variants in the pathogenesis of intervertebral disc herniation, functional genetic studies are necessary.

关 键 词：椎间盘突出 聚集蛋白 基因多态性 遗传 基质金属蛋白酶 慢性机械性腰痛 蛋白聚糖 基因分型 

分 类 号：R447[医药卫生—诊断学] R681.5[医药卫生—临床医学]