Al-Zoubi Mazhar Salim, Otoum Osama, Alsmadi Mohammed, Muhaidat Riyadh, Albdour Ahmed, Mohaidat Ziyad, Abu Alarjah Manal Issam, Al-Zoubi Raed M, Al-Batayneh Khalid M
Yarmouk University, Faculty of Medicine, Department of Basic Medical Sciences, Irbid, Jordan.
Yarmouk University, Faculty of Science, Department of Biological Sciences, Irbid, Jordan.
J Med Biochem. 2021 Mar 12;40(2):129-137. doi: 10.5937/jomb0-26367.
Intervertebral disc degeneration (IDD) is a musculoskeletal disorder and one of the major causes of low back pain leading to the disability with high economic repercussions worldwide. This study applied the candidategene approach to investigate the potential association of selected polymorphisms with IDD development in a Jordanian population.
MRI-diagnosed IDD patients (N=155) and asymptomatic individuals as a control group (N=55). Whole blood samples for four variants in three genes ( of , of and and of ) were genotyped by PCR-RFLP.
There was no significant association between the studied polymorphisms or their allelic frequency and the occurrence of IDD. However, the cohort presented a significant reverse association between C > T of the gene and the occurrence of IDD (p<0.0001). In addition, BMI showed a significant association with the IDD in the study population (p<0.005). The current study was conceptualized based on the candidate-gene approach to investigate the role of inflammatory and metabolic genes, IL and VDR, respectively, in the occurrence of IDD.
While the data presented in this study showed that polymorphisms in these genes were not associated with IDD of the cohort investigated, elevated BMI, as a measure of obesity, is strongly associated with IDD. Investigating potential roles of other structural genes, such as col-IX and aggrecan (ACAN), in IDD and considering a GWAS to elucidate a genomically global look at the basis of IDD development would be of considerable impact on our understanding of IDD.
椎间盘退变（IDD）是一种肌肉骨骼疾病，是导致全球范围内因残疾而产生高经济影响的下腰痛的主要原因之一。本研究采用候选基因方法，调查约旦人群中选定多态性与IDD发生之间的潜在关联。
通过MRI诊断的IDD患者（N = 155）和无症状个体作为对照组（N = 55）。采用PCR-RFLP对三个基因（的、的和的以及的）中的四个变体进行全血样本基因分型。
所研究的多态性或其等位基因频率与IDD的发生之间无显著关联。然而，该队列显示基因的C>T与IDD的发生之间存在显著的反向关联（p<0.0001）。此外，在研究人群中，BMI与IDD显示出显著关联（p<0.005）。本研究基于候选基因方法进行构思，分别研究炎症和代谢基因IL和VDR在IDD发生中的作用。
虽然本研究提供的数据表明这些基因中的多态性与所研究队列的IDD无关，但作为肥胖衡量指标的BMI升高与IDD密切相关。研究其他结构基因，如IX型胶原和聚集蛋白聚糖（ACAN）在IDD中的潜在作用，并考虑进行全基因组关联研究（GWAS）以从基因组全局角度阐明IDD发生基础，将对我们理解IDD产生重大影响。
