A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament
Abstract Background Thoracic ossification of the posterior longitudinal ligament (T-OPLL) is one of the common factors that cause thoracic spinal stenosis, which results in intractable myelopathy and radiculopathy. Our previous study first reported rs201153092A site mutation in the collagen 6A1 (COL...
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BMC
2019-12-01
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Series: | Journal of Orthopaedic Surgery and Research |
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Online Access: | https://doi.org/10.1186/s13018-019-1481-6 |
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author | Peng Wang Ze Teng Xiaoguang Liu Xiao Liu Chao Kong Shibao Lu |
author_facet | Peng Wang Ze Teng Xiaoguang Liu Xiao Liu Chao Kong Shibao Lu |
author_sort | Peng Wang |
collection | DOAJ |
description | Abstract Background Thoracic ossification of the posterior longitudinal ligament (T-OPLL) is one of the common factors that cause thoracic spinal stenosis, which results in intractable myelopathy and radiculopathy. Our previous study first reported rs201153092A site mutation in the collagen 6A1 (COL6A1) gene as a potentially pathogenic locus for T-OPLL. We aimed to determine whether the rs201153092A site mutation causes abnormal expression of the COL6A1 in Han Chinese patients with T-OPLL and whether this locus is also associated with cervical-OPLL. Methods Peripheral blood was collected from a total of 60 patients with T-OPLL disease (30 patients carrying the rs201153092A site mutation in COL6A1 and 30 wild-type patients) and 400 northern Chinese individuals (200 cervical-OPLL patients and 200 control subjects) using the Sequenom system. The expression of COL6A1 was analyzed by enzyme-linked immunosorbent assay, reverse transcription-quantitative polymerase chain reaction, and Western blotting. Results rs201153092A mutation resulted in markedly increased COL6A1 gene expression levels in peripheral blood samples. The allele frequency and genotype frequency results showed that this locus is no difference between cervical-OPLL patients and controls. Conclusions The rs201153092A site mutation of COL6A1 can significantly increase the expression of COL6A1. The COL6A1 gene rs201153092A site polymorphism is a potential pathogenic mutation in T-OPLL disease, which may be only associated with the occurrence of T-OPLL. |
first_indexed | 2024-04-11T13:46:06Z |
format | Article |
id | doaj.art-479b012e40684d3c87940871ac0adfe7 |
institution | Directory Open Access Journal |
issn | 1749-799X |
language | English |
last_indexed | 2024-04-11T13:46:06Z |
publishDate | 2019-12-01 |
publisher | BMC |
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series | Journal of Orthopaedic Surgery and Research |
spelling | doaj.art-479b012e40684d3c87940871ac0adfe72022-12-22T04:21:03ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2019-12-011411710.1186/s13018-019-1481-6A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligamentPeng Wang0Ze Teng1Xiaoguang Liu2Xiao Liu3Chao Kong4Shibao Lu5Department of Orthopedics, Xuanwu Hospital of Capital Medical UniversityDepartment of Radiology, Cancer Hospital Chinese Academy of Medical SciencesDepartment of Orthopedics, Peking University Third HospitalDepartment of Orthopedics, Peking University Third HospitalDepartment of Orthopedics, Xuanwu Hospital of Capital Medical UniversityDepartment of Orthopedics, Xuanwu Hospital of Capital Medical UniversityAbstract Background Thoracic ossification of the posterior longitudinal ligament (T-OPLL) is one of the common factors that cause thoracic spinal stenosis, which results in intractable myelopathy and radiculopathy. Our previous study first reported rs201153092A site mutation in the collagen 6A1 (COL6A1) gene as a potentially pathogenic locus for T-OPLL. We aimed to determine whether the rs201153092A site mutation causes abnormal expression of the COL6A1 in Han Chinese patients with T-OPLL and whether this locus is also associated with cervical-OPLL. Methods Peripheral blood was collected from a total of 60 patients with T-OPLL disease (30 patients carrying the rs201153092A site mutation in COL6A1 and 30 wild-type patients) and 400 northern Chinese individuals (200 cervical-OPLL patients and 200 control subjects) using the Sequenom system. The expression of COL6A1 was analyzed by enzyme-linked immunosorbent assay, reverse transcription-quantitative polymerase chain reaction, and Western blotting. Results rs201153092A mutation resulted in markedly increased COL6A1 gene expression levels in peripheral blood samples. The allele frequency and genotype frequency results showed that this locus is no difference between cervical-OPLL patients and controls. Conclusions The rs201153092A site mutation of COL6A1 can significantly increase the expression of COL6A1. The COL6A1 gene rs201153092A site polymorphism is a potential pathogenic mutation in T-OPLL disease, which may be only associated with the occurrence of T-OPLL.https://doi.org/10.1186/s13018-019-1481-6COL6A1ThoracicOssification of the posterior longitudinal ligament |
spellingShingle | Peng Wang Ze Teng Xiaoguang Liu Xiao Liu Chao Kong Shibao Lu A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament Journal of Orthopaedic Surgery and Research COL6A1 Thoracic Ossification of the posterior longitudinal ligament |
title | A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament |
title_full | A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament |
title_fullStr | A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament |
title_full_unstemmed | A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament |
title_short | A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament |
title_sort | new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament |
topic | COL6A1 Thoracic Ossification of the posterior longitudinal ligament |
url | https://doi.org/10.1186/s13018-019-1481-6 |
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