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证实了若干单核苷酸多态性（single nucleotide polymorphisms, SNPs）与腰椎间盘退变（lumbar disc degeneration, LDD）间存在显著关联。本研究旨在针对中国汉族人群开展病例对照研究，以验证上述SNPs与特定腰椎病变的相关性。
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：本研究共纳入428例腰椎间盘退变患者与400名正常对照个体。
结局指标：将腰椎间盘退变患者分为4个亚组，包括仅椎间盘突出组（亚组1）、合并椎间盘突出的椎间盘病变或/和骨软骨病组（亚组2）、椎管狭窄或/和腰椎滑脱组（亚组3）以及退行性脊柱侧凸组（亚组4）。本研究从环境因素与单核苷酸多态性基因分型两个方面开展检测。环境因素通过问卷调查进行评估，问卷内容涵盖体重指数（BMI, Body Mass Index）、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, Polymerase Chain Reaction）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负荷显著高于正常对照人群（P=0.035）。rs1337185与rs162509的基因型及等位基因频率在腰椎间盘退变患者与正常对照间存在显著差异。在rs1337185位点，C等位基因（风险等位基因）与椎间盘突出的发生显著相关（OR=1.80；95%CI=1.21~2.68；P=0.003，校正后P=0.012），同时与椎管狭窄及腰椎滑脱的发生亦存在显著关联（OR=1.92；95%CI=1.29~2.89；P=0.001，校正后P=0.004）。在rs162509位点，G等位基因可使椎间盘突出的发病风险升高1.58倍（OR=1.58；95%CI=1.20~2.09；P=0.001，校正后P=0.004）。
研究结论：COL11A1基因rs1337185与ADAMTS5基因rs162509多态性与腰椎间盘退变的易感性相关。rs1337185的C等位基因会增加椎间盘突出、椎管狭窄及腰椎滑脱等腰椎病变的发病风险。rs162509的G等位基因是椎间盘突出发生的危险因素。