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

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) functio...

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Autores principales: Nikolova, Svetla, Dikova, Milka, Dikov, Dobrin, Djerov, Assen, Savov, Alexey, Kremensky, Ivo, Loukanov, Alexandre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6069583/
https://www.ncbi.nlm.nih.gov/pubmed/30079294
http://dx.doi.org/10.1155/2018/6836092
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author Nikolova, Svetla
Dikova, Milka
Dikov, Dobrin
Djerov, Assen
Savov, Alexey
Kremensky, Ivo
Loukanov, Alexandre
author_facet Nikolova, Svetla
Dikova, Milka
Dikov, Dobrin
Djerov, Assen
Savov, Alexey
Kremensky, Ivo
Loukanov, Alexandre
author_sort Nikolova, Svetla
collection PubMed
description 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.
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spelling pubmed-60695832018-08-05 Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population Nikolova, Svetla Dikova, Milka Dikov, Dobrin Djerov, Assen Savov, Alexey Kremensky, Ivo Loukanov, Alexandre Anal Cell Pathol (Amst) Research Article 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. Hindawi 2018-07-18 /pmc/articles/PMC6069583/ /pubmed/30079294 http://dx.doi.org/10.1155/2018/6836092 Text en Copyright © 2018 Svetla Nikolova et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Research Article
Nikolova, Svetla
Dikova, Milka
Dikov, Dobrin
Djerov, Assen
Savov, Alexey
Kremensky, Ivo
Loukanov, Alexandre
Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population
title Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population
title_full Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population
title_fullStr Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population
title_full_unstemmed Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population
title_short Positive Association between TGFB1 Gene and Susceptibility to Idiopathic Scoliosis in Bulgarian Population
title_sort positive association between tgfb1 gene and susceptibility to idiopathic scoliosis in bulgarian population
topic Research Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6069583/
https://www.ncbi.nlm.nih.gov/pubmed/30079294
http://dx.doi.org/10.1155/2018/6836092
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