Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population
Abstract Background Ossification of the posterior longitudinal ligament (OPLL) of the spine is a complex, multifactorial disease. Although several genes that are linked to cervical OPLL susceptibility have been reported, specific genetic studies regarding thoracic OPLL are lacking. Whole-genome sequ...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-12-01
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| Series: | Journal of Orthopaedic Surgery and Research |
| Subjects: | |
| Online Access: | http://link.springer.com/article/10.1186/s13018-018-1022-8 |
| _version_ | 1811297659945746432 |
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| author | Chen Liang Peng Wang Xiao Liu Chenlong Yang Yunlong Ma Lei Yong Bin Zhu Xiaoguang Liu Zhongjun Liu |
| author_facet | Chen Liang Peng Wang Xiao Liu Chenlong Yang Yunlong Ma Lei Yong Bin Zhu Xiaoguang Liu Zhongjun Liu |
| author_sort | Chen Liang |
| collection | DOAJ |
| description | Abstract Background Ossification of the posterior longitudinal ligament (OPLL) of the spine is a complex, multifactorial disease. Although several genes that are linked to cervical OPLL susceptibility have been reported, specific genetic studies regarding thoracic OPLL are lacking. Whole-genome sequencing has been considered as an efficient strategy to search for disease-causing genes. Methods We analysed whole-genome sequences in a cohort of 25 unrelated patients with thoracic OPLL. Bioinformatics analysis and various algorithms were used to predict deleterious variants. Sanger sequencing was used to confirm the variants. Results Four deleterious mutations in three genes (c.2716C>T (p.Arg906Cys) in collagen type VI α6 (COL6A6); c.1946G>C (p.Gly649Ala) in collagen type IX α1 (COL9A1); and c.301T>C (p.Ser101Pro) and c.171A>G (p.Ile57Met) in toll-like receptor 1 (TLR1)) were successfully identified. All the variants were confirmed by Sanger sequencing. Conclusion The novel deleterious mutations of the three genes may contribute to the development of thoracic OPLL. |
| first_indexed | 2024-04-13T06:07:39Z |
| format | Article |
| id | doaj.art-10aacbc21aa849839b189b0fec3f2f15 |
| institution | Directory Open Access Journal |
| issn | 1749-799X |
| language | English |
| last_indexed | 2024-04-13T06:07:39Z |
| publishDate | 2018-12-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Orthopaedic Surgery and Research |
| spelling | doaj.art-10aacbc21aa849839b189b0fec3f2f152022-12-22T02:59:11ZengBMCJournal of Orthopaedic Surgery and Research1749-799X2018-12-011311810.1186/s13018-018-1022-8Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese populationChen Liang0Peng Wang1Xiao Liu2Chenlong Yang3Yunlong Ma4Lei Yong5Bin Zhu6Xiaoguang Liu7Zhongjun Liu8Department of Orthopaedics, Peking University Third HospitalDepartment of Orthopaedics, Peking University Third HospitalDepartment of Orthopaedics, Peking University Third HospitalDepartment of Orthopaedics, Peking University Third HospitalThe Centre for Pain Medicine, Peking University Third HospitalDepartment of Orthopaedics, Peking University Third HospitalThe Centre for Pain Medicine, Peking University Third HospitalDepartment of Orthopaedics, Peking University Third HospitalDepartment of Orthopaedics, Peking University Third HospitalAbstract Background Ossification of the posterior longitudinal ligament (OPLL) of the spine is a complex, multifactorial disease. Although several genes that are linked to cervical OPLL susceptibility have been reported, specific genetic studies regarding thoracic OPLL are lacking. Whole-genome sequencing has been considered as an efficient strategy to search for disease-causing genes. Methods We analysed whole-genome sequences in a cohort of 25 unrelated patients with thoracic OPLL. Bioinformatics analysis and various algorithms were used to predict deleterious variants. Sanger sequencing was used to confirm the variants. Results Four deleterious mutations in three genes (c.2716C>T (p.Arg906Cys) in collagen type VI α6 (COL6A6); c.1946G>C (p.Gly649Ala) in collagen type IX α1 (COL9A1); and c.301T>C (p.Ser101Pro) and c.171A>G (p.Ile57Met) in toll-like receptor 1 (TLR1)) were successfully identified. All the variants were confirmed by Sanger sequencing. Conclusion The novel deleterious mutations of the three genes may contribute to the development of thoracic OPLL.http://link.springer.com/article/10.1186/s13018-018-1022-8Ossification of the posterior longitudinal ligamentThoracicWhole-genome sequencingSusceptible gene |
| spellingShingle | Chen Liang Peng Wang Xiao Liu Chenlong Yang Yunlong Ma Lei Yong Bin Zhu Xiaoguang Liu Zhongjun Liu Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population Journal of Orthopaedic Surgery and Research Ossification of the posterior longitudinal ligament Thoracic Whole-genome sequencing Susceptible gene |
| title | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population |
| title_full | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population |
| title_fullStr | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population |
| title_full_unstemmed | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population |
| title_short | Whole-genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the Chinese population |
| title_sort | whole genome sequencing reveals novel genes in ossification of the posterior longitudinal ligament of the thoracic spine in the chinese population |
| topic | Ossification of the posterior longitudinal ligament Thoracic Whole-genome sequencing Susceptible gene |
| url | http://link.springer.com/article/10.1186/s13018-018-1022-8 |
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