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| This article is part of the supplement: 5th International Conference on Conservative Management of Spinal Deformities . Oral presentationThe association between IL-6 and MMP-3 gene polymorphisms and adolescent idiopathic scoliosis: a case-control study1 Department of Orthopedics, Pediatric Hospital Bambino Gesù, Rome Department of Medicine, A. Gemelli University Hospital, Rome, Italy 2 Department of Orthopedics, A. Gemelli University Hospital, Rome, Italy
from 5th International Conference on Conservative Management of Spinal Deformities Scoliosis 2009, 4(Suppl 1):O1doi:10.1186/1748-7161-4-S1-O1 The electronic version of this abstract is the complete one and can be found online at: http://www.scoliosisjournal.com/content/4/S1/O1
© 2009 Aulisa et al; licensee BioMed Central Ltd. BackgroundThe nucleus pulposus of scoliotic discs respond to exogenous stimuli by secreting interleukin-6 (IL-6) and other inflammatory cytokines. The association between matrix metalloproteinases (MMPs) and disc degeneration has been reported by several investigators. A human MMP-3 promoter 5A/6A gene polymorphism regulates MMP-3 genes expression, while the G/C polymorphism of the promoter region of IL-6 gene influences levels and functional activity of the IL-6 protein. MethodsWe conducted a case-control study to investigate whether the 5A/6A polymorphism of the MMP-3 gene and the G/C polymorphism of the promoter region of IL-6 gene were associated with the susceptibility to develop AIS. ResultsThe frequency of the 5A/5A genotype of MMP-3 gene polymorphism in patients with scoliosis was almost 3 times higher than in controls (30.2% vs. 11.2%, P 0.001). The frequency of the G/G genotype of IL-6 gene polymorphism in patients with scoliosis was almost 2 times higher than in controls (52.8% vs. 26.2%, P < 0.001). 5A/5A genotype of MMP-3 gene polymorphism and G/G genotype of IL-6 gene polymorphism are independently associated with a higher risk of scoliosis (odds ratio, respectively, 3.34 and 10.54). ConclusionThis is the first study performed to evaluate the possibility that gene variants of IL-6 and MMPs may be associated with scoliosis. This study suggests that MMP-3 and IL-6 promoter polymorphisms constitute important factors in the genetic predisposition to scoliosis. References
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