Folate Cycle and Interleukin 6 Genes Polymorphisms in Children with Idiopathic Scoliosis and its Relation with Pathogenesis of Disease: A Case Control Study

摘要

Spine deformity formed as a result of anomalies in its development and this is one of the common orthopaedic pathologies of childhood. The results of some genetic studies did not show significant relationship between the different polymorphisms studied and the rate of progression of Idiopathic Scoliosis (IS). The study on new genetic markers for IS is an important and urgent task.Aim: To study the molecular genetic analysis of folate cycle genes and Interleukin 6 (IL-6) gene polymorphism in children with progressive type of IS.Materials and Methods: The case-control study was conducted on 110 children with IS between the age of 14 years to 18 years and 110 healthy volunteers without pathology of the spine. The study was carried out by the methods of molecular genetics analysis. Molecular diagnostics were carried out by analysing multiple polymorphic regions in the folate group and IL-6 gene, which are of clinical importance due to their predisposing factors in spine malformations. Genotyping of the gene polymorphism was performed using Polymerase Chain Reaction (PCR) in conventional and real-time method and the PCR products were analysed directly on the CFX96 Touch Real-Time PCR Detection System or by gel electrophoresis. Statistical analysis was performed with software package Statistica 6.0.Results: The polymorphisms of the genes MTHFR, MTR, MTRR, IL-6 and their frequency distribution among patients with IS and control group were investigated. Some differences in the distribution of genotypes compared with the control group were found in the MTHFRA1298C, MTHFRC677T, MTRA2756G, MTRRA66G, and IL-6G (-174)C polymorphisms. The most significant differences were revealed for MTRA2756G polymorphism, and especially when dividing the group of patients with IS by gender.Conclusion: The results suggested that some polymorphisms of the folate group and IL-6 genes are involved in the pathogenesis of IS. This is also indicated by the well-known role that these genes do play in the ontogeny of the spine.