• Svetla Todorova Nikolova, Vasil Tsankov Yablanski, Evgeni Nedev Vlaev, Luben Dimitrov Stokov, Alexey Slavkov Savov, Ivo Marinov Kremensky, and Alexandre Roumenov Loukanov.
• *National Genetic Laboratory, Department of Obstetrics and Gynecology, Faculty of Medicine, Medical University-Sofia†Tokuda Hospital Sofia, Orthopedic and Traumatology Clinic‡University Orthopedic Hospital "Prof. Boycho Boychev"§Molecular Medicine Center, Medical University-Sofia, Bulgaria||Graduate School of Science and Engineering, Saitama University, Japan.
• Spine. 2016 May 1; 41 (9): 785-91.

Study DesignA case-control study was performed on 105 patients with idiopathic scoliosis (IS) and 210 unrelated gender-matched controls from Bulgarian population.ObjectiveInvestigation of the association between common genetic polymorphisms of IL-6 and MMP3 genes and the etiology and progression of IS among Bulgarian patients.Summary Of Background DataThe IL-6 and MMP3 genes have been considered as candidate genes of IS in Caucasian population.MethodsMolecular detection of the promoter polymorphisms of IL-6 and MMP3 was performed by polymerase chain reaction followed by restriction fragment length polymorphism. The statistical analysis was performed by χ test with a value of P < 0.05 as statistically significant. The combinatorial effect of the candidate genes was also examined.ResultsThis case-control study revealed statistically significant association between the IL-6 (rs1800795) functional polymorphism and susceptibility to IS (χ = 16.055; P < 0.0001). In addition, a significant association between IL-6 (rs1800795) and curve severity was detected (χ = 16.87; P < 0.0001). No genotype or allele of MMP3 (rs3025058) was found to be correlated to the onset or progression of IS (P > 0.05). One IL-6-MMP3 genotype combination was associated with the susceptibility to IS.ConclusionIL-6 gene could be considered as a susceptibility and modifying factor of IS. The identification of molecular markers with diagnostic and prognostic value could be useful for early detection of children at risk for the development of IS and for prognosis of the risk for a rapid deformity progression. That would facilitate the therapy decisions and early stage treatment of the patient with the least invasive procedures.Level Of Evidence4.

33 keywords...

hide…