Hyun Seung-Jae, Park Borae G, Rhim Seung-Chul, Jang Jun-Won, Jeon Sang-Ryong, Roh Sung-Woo
Department of Neurosurgery, Spine Center, Seoul National University Bundang Hospital, Seoul National University College of Medicine, Seongnam, Republic of Korea.
Eur Spine J. 2014 Jan;23(1):57-63. doi: 10.1007/s00586-013-2866-6. Epub 2013 Jun 27.
The aim of this study is to determine the contribution of thrombospondin 2 (THBS2) polymorphisms to the development and progression of lumbar spinal stenosis (LSS) in the Korean population.
We studied 148 symptomatic patients with radiographically proven LSS and 157 volunteers with no history of back problems from our institution. Magnetic resonance images were obtained for all the patients and controls. Quantitative image evaluation for LSS was performed to evaluate the severity of LSS. All patients and controls were genotyped for THBS2 allele variations using a polymerase chain reaction-based technique.
We found no causal single nucleotide polymorphism (SNPs) in THBS2 that were significantly associated with LSS. Two SNPs (rs6422747, rs6422748) were over-represented in controls [P = 0.042, odds ratio [OR] = 0.55 and P = 0.042, OR = 0.55, respectively]. Haplotype analysis showed that the ''AGAGACG'' haplotype (HAP4) and ''AAGGACG'' haplotype (HAP5) were over-represented in severe LSS patients (P = 0.0147, OR = 2.02 and P = 0.0137, OR = 2.48, respectively). In addition, the ''AAAGGGG'' haplotype (HAP1) was over-represented in controls (P = 0.0068, OR = 0.30).
Although no SNPs in THBS2 were associated with LSS, haplotypes (HAP4 and HAP5) were significantly associated with progression of LSS in the Korean population, whereas another haplotype (HAP1) may play a protective role against LSS development.
本研究旨在确定血小板反应蛋白2（THBS2）基因多态性对韩国人群腰椎管狭窄症（LSS）发生和进展的影响。
我们研究了148例经影像学证实为LSS的有症状患者以及来自本机构的157例无背部问题病史的志愿者。对所有患者和对照者进行了磁共振成像检查。对LSS进行定量图像评估以评估LSS的严重程度。使用基于聚合酶链反应的技术对所有患者和对照者的THBS2等位基因变异进行基因分型。
我们未发现THBS2中与LSS显著相关的因果单核苷酸多态性（SNP）。两个SNP（rs6422747、rs6422748）在对照者中出现的频率较高[P = 0.042，优势比（OR）= 0.55；P = 0.042，OR = 分别为0.55]。单倍型分析显示，“AGAGACG”单倍型（HAP4）和“AAGGACG”单倍型（HAP5）在重度LSS患者中出现的频率较高（P = 0.0147，OR = 2.02；P = 0.0137，OR = 分别为2.48）。此外，“AAAGGGG”单倍型（HAP1）在对照者中出现的频率较高（P = 0.0068，OR = 0.30）。
虽然THBS2中的SNP与LSS无关，但单倍型（HAP4和HAP5）与韩国人群LSS的进展显著相关，而另一种单倍型（HAP1）可能对LSS的发生起保护作用。
