The Evaluation of Proteoglycan Levels and the Possible Role of ACAN Gene (c.6423T>C) Variant in Patients with Lumbar Disc Degeneration Disease

评估蛋白聚糖水平及ACAN基因(c.6423T>C)变异在腰椎间盘退变性疾病患者中的可能作用

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Abstract

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.

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