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

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.

Idiopathic scoliosis as a multifactorial disease: systematic review of current literature

“…При этом в отдельную группу можно вынести гены, коррелирующие не с наличием ИС, а с его тяжестью. Корреляция с наличием ИС хотя бы в одном исследовании выявлена в отношении генов MAPK7 [14] и аллельный маркер DS1034 в хромосоме 19p13.3 [15], LBX1 [16], MATN1 (матрилин 1) [17], ESR2 (рецептор эстрогенов бета) [18], BMP4, IL-6 (интерлейкин-6), leptin, MMP3, MTNR1B (рецептор мелатонина 1b) [19], CALM1 (кальмодулин 1) [20], VDR (рецептор витамина Д) [21], TPH1 (триптофангидроксилаза 2) [22], FBN1 (фибриллин-1) и FBN2 (фибриллин-2) [23], COL11A1, COL11A2 и TGFBR2 [24], GPR126 (G-белок, связанный с рецептором 126) [25], PAX1 (парный бокс 1) [26], TGFB1 (трансформирующий фактор роста бета 1) [27], C17orf67 и DOT1L [28], IL-17RC (интер-лейкин 17 рецептор C) [29], POC5 (центриолярный белок) [30], NUCKS1 (ядерная казеинкиназа и циклин-зависимая киназа субстрат 1) [31], гомеобокс гены HOXB8, HOXB7, HOXA13, HOXA10), ZIC2, FAM101A (регулятор белка филамина А), COMP (олигомерный матриксный белок хряща) и PITX1 (парный гомеодоменный фактор транскрипции) [32,33].…”

Knowledge mapping of idiopathic scoliosis genes and research hotspots (2002–2022): a bibliometric analysis

“…Despite the vast amount of research conducted on IS-related genes, the specific mechanism underlying altered spine anatomy remains elusive ( 10 ). Several types of pathogenic gene mutations have been identified in idiopathic scoliosis through genetic studies, including a group of the TGFB1 gene and the MiR4300HG gene that are related to the severity of the curve; a category of LBX1 , NTF3 and SOCS3 that can predict progress curves; and a cohort of susceptibility loci in SOX9 , MATN1 , AJAP1 , MMP9 and TIMP2 associated with cartilage and extracellular matrix ( 11 , 12 ).…”

Plasma proteomics analysis of adolescent idiopathic scoliosis patients revealed by Quadrupole‐Orbitrap mass spectrometry

“…[3]. Among these factors, genetic variants have been considered to play important role and a lot of genome‐wide association studies have been performed [4 ‐ 7]. However, the identification of the single gene responsible for the development of this condition seems impossible, which suggests multifactorial mechanism of its formation [8].…”