Association between the-1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults
Association between the-1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults
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DOI：
10.1007/s00586-007-0454-3
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发表时间：
2007-11-01
影响因子：
2.8
通讯作者：
Wang, Y. S.
中科院分区：
文献类型：
--
作者：
Dong, D. M.;Yao, M.;Wang, Y. S.
基质金属蛋白酶-2（MMP-2）在腰椎间盘疾病（LDD）的病理生理学中起着关键作用。MMP-2的表达和活性增加已在退变椎间盘中被证实。MMP-2基因启动子区-1306C/T多态性影响基因的转录和表达。本研究旨在探讨MMP-2基因-1306C/T多态性与LDD的发生及临床特征的关系。采用聚合酶链反应（PCR）和直接DNA测序法对162例年轻LDD患者和318例年龄和性别匹配的健康成人进行了病例对照研究。结果显示，LDD患者MMP-2基因-1306CC基因型频率显著高于对照组。与携带至少一个变异T等位基因的受试者相比，携带CC基因型的受试者患LDD的风险增加近3倍（比值比3.08; 95%置信区间1.84-5.16）。此外，该基因型与磁共振成像扫描观察到的更严重的椎间盘退变等级相关。提示MMP-2基因-1306C/T多态性可能是青年人群LDD易感性的遗传危险因素。
Matrix metalloproteinase-2 (MMP-2) has been shown to play a pivotal role in the pathophysiology of lumbar disc disease (LDD). Increased expression and activity of MMP-2 has been documented in degenerative discs. The polymorphism -1306C/T in the promoter region of MMP-2 gene was reported to influence gene transcription and expression. The objective of this study was therefore to investigate the possible association of MMP-2 -1306C/T polymorphism with the occurrence and the clinical characteristics of LDD. MMP-2 genotypes were determined by polymerase chain reaction (PCR) and direct DNA sequencing in a case-control study involving 162 younger patients with LDD and 318 age- and sex-matched healthy adults. The results showed that the frequency of MMP-2 -1306CC genotype was significantly higher in LDD patients when compared with controls. Subjects with the CC genotype had nearly threefold increased risk for LDD (odds ratio 3.08; 95% confidence interval 1.84-5.16) compared with subjects carrying at least one variant T allele. Furthermore, this genotype was found to correlate with more severe grades of disc degeneration observed on magnetic resonance imaging scan. These findings suggest that MMP-2 -1306C/T polymorphism may be a genetic risk factor related to LDD susceptibility in the young adult population.