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|Title: ||Association between promoter -1607 polymorphism of MMPI and Lumbar Disc Disease in Southern Chinese|
|Authors: ||Song, You-Qiang|
Ho, Daniel W. H.
Kao, Patrick Y. P.
Luk, Keith D. K.
Leong, John C. Y.
Cheah, Kathryn S. E.
Sham, Pak Chung
Cheung, Kenneth M. C.
|Subjects: ||Genetic polymorphisms|
|Issue Date: ||28-Apr-2008 |
|Publisher: ||BioMed Central Ltd.|
|Citation: ||BMC medical genetics, 28 Apr. 2008, v. 9, 38, p. 1-6.|
|Abstract: ||Background: Matrix metalloproteinases (MMPs) are involved in the degradation of the extracellular
matrix of the intervertebral disc. A SNP for guanine insertion/deletion (G/D), the -1607 promoter
polymorphism, of the MMP1 gene was found significantly affecting promoter activity and corresponding
transcription level. Hence it is a good candidate for genetic studies in DDD.|
Methods: Southern Chinese volunteers between 18 and 55 years were recruited from the population.
DDD in the lumbar spine was defined by MRI using Schneiderman's classification. Genomic DNA was
isolated from the leukocytes and genotyping was performed using the Sequenom® platform. Association
and Hardy-Weinberg equilibrium checking were assessed by Chi-square test and Mann-Whitney U test.
Results: Our results showed substantial evidence of association between -1607 promoter polymorphism
of MMP1 and DDD in the Southern Chinese subjects. D allelic was significantly associated with DDD (p
value = 0.027, odds ratio = 1.41 with 95% CI = 1.04–1.90) while Genotypic association on the presence
of D allele was also significantly associated with DDD (p value = 0.046, odds ratio = 1.50 with 95% CI =
1.01–2.24). Further age stratification showed significant genotypic as well as allelic association in the group
of over 40 years (genotypic: p value = 0.035, odds ratio = 1.617 with 95% CI = 1.033–2.529; allelic: p value
= 0.033, odds ratio = 1.445 with 95% CI = 1.029–2.029). Disc bulge, annular tears and the Schmorl's nodes
were not associated with the D allele.
Conclusion: We demonstrated that individuals with the presence of D allele for the -1607 promoter
polymorphism of MMP1 are about 1.5 times more susceptible to develop DDD when compared with
those having G allele only. Further association was identified in individuals over 40 years of age. Disc bulge,
annular tear as well as Schmorl's nodes were not associated with this polymorphism.
|Description: ||DOI: 10.1186/1471-2350-9-38|
|Rights: ||© 2008 Song et al; licensee BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.|
|Type: ||Journal/Magazine Article|
|Appears in Collections:||HTI Journal/Magazine Articles|
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