Association between the -1306C/T polymorphism of matrix metalloproteinase-2 gene and lumbar disc disease in Chinese young adults

• Published in: European spine journal Vol. 16; no. 11; pp. 1958 - 1961
• Main Authors: Dong, D. M., Yao, M., Liu, B., Sun, C. Y., Jiang, Y. Q., Wang, Y. S.
• Format: Journal Article
• Language: English
• Published: Germany Springer Nature B.V 01.11.2007; Springer-Verlag
• Subjects: Adult; Asian Continental Ancestry Group - genetics; Case-Control Studies; China; Female; Genetic Predisposition to Disease; Humans; Lumbar Vertebrae - enzymology; Lumbar Vertebrae - pathology; Male; Matrix Metalloproteinase 2 - genetics; Original; Polymorphism, Single Nucleotide - genetics; Spinal Diseases - enzymology; Spinal Diseases - genetics; China
• ISSN: 0940-6719; 1432-0932
• DOI: 10.1007/s00586-007-0454-3

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.