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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...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
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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. |
format | Online Article Text |
id | pubmed-6069583 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
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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