ArticleScientific reports2016
Targeted next-generation sequencing reveals multiple deleterious variants in OPLL-associated genes.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 26 citations in OpenAlex.
- The Hedgehog-GLI1 Pathway Regulates Osteogenic Differentiation of Human Cervical Posterior Longitudinal Ligament Cells by BMP Signalling Pathway.Journal of cellular and molecular medicine · 2025Article
- Spinal hypermobility accelerates ossification in posterior longitudinal ligaments: insights from anFrontiers in physiology · 2025Article
- Risk Factors for Significant Intraoperative Blood Loss during Anterior Cervical Decompression and Fusion for Degenerative Cervical Diseases.Orthopaedic surgery · 2023Article
- Evidence for a genetic contribution to the ossification of spinal ligaments in Ossification of Posterior Longitudinal Ligament and Diffuse idiopathic skeletal hyperostosis: A narrative review.Frontiers in genetics · 2022Review
- Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population.European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research Society · 2021Article
- Influence of K-line on intraoperative and hidden blood loss in patients with ossification of the posterior longitudinal ligament when undergoing unilateral open-door laminoplasty.Journal of orthopaedic surgery and research · 2021Article
- The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament.Molecular medicine reports · 2020Article
- The Genetic Architecture of High Bone Mass.Frontiers in endocrinology · 2020Review
- A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament.Journal of orthopaedic surgery and research · 2019Article
- An Age-old Debate: Anterior Versus Posterior Surgery for Ossification of the Posterior Longitudinal Ligament.Neurospine · 2019Article
- IL17RC affects the predisposition to thoracic ossification of the posterior longitudinal ligament.Journal of orthopaedic surgery and research · 2019Article
- Potential role of the IL17RC gene in the thoracic ossification of the posterior longitudinal ligament.International journal of molecular medicine · 2019Article
- Article
- 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 · 2018Article
- The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.Scientific reports · 2016Article
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16 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Ossification of the posterior longitudinal ligament of the spine (OPLL), which is characterized by ectopic bone formation in the spinal ligaments, can cause spinal-cord compression. To date, at least 11 susceptibility genes have been genetically linked to OPLL. In order to identify potential deleterious alleles in these OPLL-associated genes, we designed a capture array encompassing all coding regions of the target genes for next-generation sequencing (NGS) in a cohort of 55 unrelated patients with OPLL. By bioinformatics analyses, we successfully identified three novel and five extremely rare variants (MAF < 0.005). These variants were predicted to be deleterious by commonly used various algorithms, thereby resulting in missense mutations in four OPLL-associated genes (i.e., COL6A1, COL11A2, FGFR1, and BMP2). Furthermore, potential effects of the patient with p.Q89E of BMP2 were confirmed by a markedly increased BMP2 level in peripheral blood samples. Notably, seven of the variants were found to be associated with the patients with continuous subtype changes by cervical spinal radiological analyses. Taken together, our findings revealed for the first time that deleterious coding variants of the four OPLL-associated genes are potentially pathogenic in the patients with OPLL.
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