Kanna Rishi Mugesh, Shanmuganathan Rajasekaran, Rajagopalan Veera Ranjani, Natesan Senthil, Muthuraja Raveendran, Cheung Kenneth Man Chee, Chan Danny, Kao Patrick Yu Ping, Yee Anita, Shetty Ajoy Prasad
Department of Orthopaedics and Spine Surgery, Ganga Hospital, Coimbatore, India.
Department of Plant Genomics, Tamilnadu Agricultural University, Coimbatore, India.
Asian Spine J. 2017 Aug;11(4):594-600. doi: 10.4184/asj.2017.11.4.594. Epub 2017 Aug 7.
A prospective genetic association study.
The etiology of Modic changes (MCs) is unclear. Recently, the role of genetic factors in the etiology of MCs has been evaluated. However, studies with a larger patient subset are lacking, and candidate genes involved in other disc degeneration phenotypes have not been evaluated. We studied the prevalence of MCs and genetic association of 41 candidate genes in a large Indian cohort.
MCs are vertebral endplate signal changes predominantly observed in the lumbar spine. A significant association between MCs and lumbar disc degeneration and nonspecific low back pain has been described, with the etiopathogenesis implicating various mechanical, infective, and biochemical factors.
We studied 809 patients using 1.5-T magnetic resonance imaging to determine the prevalence, patterns, distribution, and type of lumbar MCs. Genetic association analysis of 71 single nucleotide polymorphisms (SNPs) of 41 candidate genes was performed based on the presence or absence of MCs. SNPs were genotyped using the Sequenome platform, and an association test was performed using PLINK software.
The mean age of the study population (n=809) was 36.7±10.8 years. Based on the presence of MCs, the cohort was divided into 702 controls and 107 cases (prevalence, 13%). MCs were more commonly present in the lower (149/251, 59.4%) than in the upper (102/251, 40.6%) endplates. L4-5 endplates were the most commonly affected levels (30.7%). Type 2 MCs were the most commonly observed pattern (n=206, 82%). The rs2228570 SNP of VDR (=0.02) and rs17099008 SNP of MMP20 (=0.03) were significantly associated with MCs.
Genetic polymorphisms of SNPs of VDR and MMP20 were significantly associated with MCs. Understanding the etiopathogenetic mechanisms of MCs is important for planning preventive and therapeutic strategies.
一项前瞻性基因关联研究。
Modic改变（MCs）的病因尚不清楚。最近，已对基因因素在MCs病因中的作用进行了评估。然而，缺乏对更大患者子集的研究，且尚未评估涉及其他椎间盘退变表型的候选基因。我们在一个大型印度队列中研究了MCs的患病率以及41个候选基因的基因关联。
MCs是主要在腰椎观察到的椎体终板信号改变。已描述了MCs与腰椎间盘退变和非特异性下腰痛之间的显著关联，其发病机制涉及各种机械、感染和生化因素。
我们使用1.5-T磁共振成像研究了809例患者，以确定腰椎MCs的患病率、模式、分布和类型。基于MCs的存在与否，对41个候选基因的71个单核苷酸多态性（SNPs）进行基因关联分析。使用Sequenome平台对SNPs进行基因分型，并使用PLINK软件进行关联测试。
研究人群（n = 809）的平均年龄为36.7±10.8岁。根据MCs的存在情况，该队列分为702例对照和107例病例（患病率为13%）。MCs在下终板（149/251，59.4%）比上终板（102/251，40.6%）更常见。L4-5终板是最常受累的节段（30.7%）。2型MCs是最常观察到的模式（n = 206，82%）。VDR的rs2228570 SNP（P = 0.02）和MMP20的rs17099008 SNP（P = 0.03）与MCs显著相关。
VDR和MMP20的SNPs基因多态性与MCs显著相关。了解MCs的发病机制对于制定预防和治疗策略很重要。
