腰椎间盘退变疾病患者中蛋白聚糖水平的评估及基因（c.6423T>C）变异的可能作用
The Evaluation of Proteoglycan Levels and the Possible Role of Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease.
作者信息
Yaltirik Cumhur Kaan, Timirci-Kahraman Özlem, Gulec-Yilmaz Seda, Ozdogan Selcuk, Atalay Basar, Isbir Turgay
机构信息
Department of Neurosurgery, Faculty of Medicine, Yeditepe University, Istanbul, Turkey
Department of Molecular Medicine, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.
出版信息
In Vivo. 2019 Mar-Apr;33(2):413-417. doi: 10.21873/invivo.11488.
BACKGROUND/AIM: The present study aimed to investigate the role of an aggrecan (ACAN) gene variant and proteoglycan levels in the risk of lumbar degenerative disc disease (LDDD).
MATERIALS AND METHODS
A total of 108 patients with LDDD and 103 healthy controls were enrolled. Molecular assessment of the ACAN gene (c.6423T>C) variant was determined by real time-polymerase chain reaction. Proteoglycan levels in serum were measured with enzyme-linked immunosorbent assay.
RESULTS
The frequency of all alleles and genotypes in all study groups were distributed according to the Hardy-Weinberg equilibrium. In addition, no association between the ACAN gene (c.6423T>C) variant and presence of risk factors for LDDD was detected. However, proteoglycan levels were significantly lower in patients with LDDD compared to the control group (p<0.00001).
CONCLUSION
Our findings suggest that proteoglycan has emerged as a potential novel biomarker which might be used for prediction of LDDD risk.
背景/目的：本研究旨在探讨聚集蛋白聚糖（ACAN）基因变异和蛋白聚糖水平在腰椎退行性椎间盘疾病（LDDD）风险中的作用。
材料与方法
共纳入108例LDDD患者和103例健康对照。通过实时聚合酶链反应确定ACAN基因（c.6423T>C）变异的分子评估。用酶联免疫吸附测定法测量血清中的蛋白聚糖水平。
结果
所有研究组中所有等位基因和基因型的频率均符合哈迪-温伯格平衡分布。此外，未检测到ACAN基因（c.6423T>C）变异与LDDD危险因素存在之间的关联。然而，与对照组相比，LDDD患者的蛋白聚糖水平显著降低（p<0.00001）。
结论
我们的研究结果表明，蛋白聚糖已成为一种潜在的新型生物标志物，可用于预测LDDD风险。
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