Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population.

Svetla Nikolova,Alexey Savov,Alexandre Loukanov,Dobrin Dikov,Milka Dikova,Ivo Kremensky,Assen Djerov

doi:10.1155/2018/6836092

Abstract

Idiopathic scoliosis (IS) is a common medical condition beginning in childhood and characterized by strong evidence for a genetic susceptibility to three-dimensional spinal deformity. The primary goal of the current case-control study is to examine the association between the TGFB1 (-509C/T) functional polymorphic variant and genetic predisposition to IS in the Bulgarian population and the genotype-phenotype correlations in distinct case-control subgroups based on age at onset, family history, and gender. A total of 127 patients with primary scoliosis and 254 gender-matched control subjects were recruited. The mean Cobb angle was 53.8 ± 21.2°. Genotyping of cases and controls was performed using the TaqMan real-time amplification technique. The results were processed statistically using Pearson's Chi-squared test and Fisher's exact test with a value of p less than 0.05 as statistically significant. The polymorphic T allele and TT genotype were associated with a greater incidence of IS and can be considered as predisposing factors with a moderate effect on deformity development. The current results suggested that there was a genetic predisposition in early and late onset IS and familial, sporadic, and female cases. Nevertheless, replication studies are needed to reveal the relationship between the TGFB1 locus and certain subtypes of IS in different populations.

Highlights

While mutations are the root cause of monogenic diseases and rare syndromes, functional genetic polymorphisms can often be associated with the etiopathogenesis of multifactorial diseases and common medical conditions
Idiopathic scoliosis (IS) is a common medical condition beginning in childhood and characterized by strong evidence for a genetic susceptibility to three-dimensional spinal deformity [1]
The increase of the Transforming growth factor beta 1 (TGFB1) level in the apical articular processes of the concave side of the Analytical Cellular Pathology curve in Adolescent idiopathic scoliosis (AIS) may be due to the reconstruction of the extracellular matrix and the compensatory reactions which are caused by abnormal biomechanical forces, especially compressive stresses [7, 8]

Summary

Introduction

While mutations are the root cause of monogenic diseases and rare syndromes, functional genetic polymorphisms can often be associated with the etiopathogenesis of multifactorial diseases and common medical conditions. Idiopathic scoliosis (IS) is a common medical condition beginning in childhood and characterized by strong evidence for a genetic susceptibility to three-dimensional spinal deformity [1]. The results from two studies [7, 8] in AIS patients of Asian descent indicated a marked increase in TGFB1 expression level at the concave side of the spinal curve compared to the convex side. This phenomenon suggests the involvement of TGFB1 as an etiological factor or a secondary factor in the development of the spine deformity. In a study of 9 IS patients of European descent, no differences in TGFB1 expression were found between paraspinal muscles of both sides of the curve [9]

Methods

Results

Discussion

Conclusion