Data from: Association between COL11A1 (rs1337185) and ADAMTS5 (rs162509) gene polymorphisms and lumbar spine pathologies in Chinese Han population: an observational study

Objectives: A previous study identified a significant association between several single nucleotide polymorphisms (SNPs) and lumbar disc degeneration (LDD) in Indians. To validate the association between these SNPs and specific lumbar spine pathologies, we performed a case-control study in Chinese Han population. Design: An observational study. Setting: University Hospital in Nanning, China. Participants: This study included 428 LDD patients and 400 normal controls. Outcome measures: LDD Patients were classified into 4 subgroups, including disc herniation only (Subgroup 1), discopathies or/and osteochondrosis associated with disc herniation (Subgroup 2), spinal stenosis or/and spondylolisthesis (Subgroup 3), and degenerative scoliosis (Subgroup 4). This study was conducted by examining 2 aspects: environmental factors and SNP genotyping. The environmental factors were evaluated with a questionnaire survey including questions about BMI, smoking habits, the physical demands of their job and exposure to vibrations. Rs1337185, rs5275, rs5277, rs7575934, rs3213718 and rs162509 were genotyped using a PCR-based Invader assay. Results: The physical workload was significantly higher in patients with lumbar spine pathologies than in the normal controls (P=0.035). The genotype and allele frequencies of rs1337185 and rs162509 were significantly different between the LDD patients and the normal controls. In rs1337185, a significant association was found between the C allele (risk allele) and the presence of disc herniation (OR=1.80; 95%CI= 1.21-2.68; P=0.003, adjusted P=0.012), and the presence of spinal stenosis and spondylolisthesis (OR=1.92; 95%CI=1.29-2.89; P= 0.001, adjusted P=0.004). In rs162509, the G allele represented 1.58-fold increased risk to suffer from disc herniation (OR=1.58; 95%CI=1.20-2.09; P=0.001, adjusted P=0.004). Conclusions: The SNPs rs1337185 in COL11A1 and rs162509 in ADAMTS5 are associated with susceptibility to LDD. The C allele of rs1337185 is risky for patients who are affected by lumbar pathologies such as disc herniation, stenosis and spondylolisthesis. The G allele of rs16250 represents a risk factor for the development of disc herniation.研究目的：既往一项研究在印度人群中发现数种单核苷酸多态性（Single Nucleotide Polymorphism, SNPs）与腰椎间盘退变（Lumbar Disc Degeneration, LDD）存在显著关联。为验证上述SNPs与特定腰椎病变的相关性，本研究在中国汉族人群中开展了一项病例对照研究。 研究设计：观察性研究。 研究地点：中国南宁某大学附属医院。 研究对象：本研究纳入428例LDD患者及400名正常对照者。 结局指标：将LDD患者分为4个亚组：仅椎间盘突出症亚组（亚组1）、合并椎间盘突出的椎间盘病或/和骨软骨病亚组（亚组2）、椎管狭窄或/和腰椎滑脱亚组（亚组3）以及退行性脊柱侧凸亚组（亚组4）。本研究从两方面进行检测：环境因素与SNP基因分型。环境因素通过问卷调查进行评估，问卷内容涵盖体质量指数（BMI）、吸烟习惯、工作体力负荷及振动暴露情况。采用基于聚合酶链式反应（PCR）的Invader检测法对rs1337185、rs5275、rs5277、rs7575934、rs3213718及rs162509进行基因分型。 研究结果：腰椎病变患者的体力工作负荷显著高于正常对照者（P=0.035）。rs1337185与rs162509的基因型及等位基因频率在LDD患者与正常对照者间存在显著差异。在rs1337185位点，C等位基因（风险等位基因）与椎间盘突出症（比值比OR=1.80；95%置信区间CI=1.21~2.68；P=0.003，校正P=0.012）以及椎管狭窄与腰椎滑脱（OR=1.92；95%CI=1.29~2.89；P=0.001，校正P=0.004）的发生显著相关。在rs162509位点，G等位基因会使椎间盘突出症的发病风险升高1.58倍（OR=1.58；95%CI=1.20~2.09；P=0.001，校正P=0.004）。 研究结论：COL11A1基因的rs1337185位点与ADAMTS5基因的rs162509位点与LDD的易感性相关。rs1337185的C等位基因是椎间盘突出症、椎管狭窄及腰椎滑脱等腰椎病变患者的风险因素。rs162509的G等位基因是椎间盘突出症发生的危险因素。