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A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament.
- Source :
- Journal of Orthopaedic Surgery & Research; 12/12/2019, Vol. 14 Issue 1, p1-7, 7p, 6 Charts, 2 Graphs
- Publication Year :
- 2019
-
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. [ABSTRACT FROM AUTHOR]
- Subjects :
- BLOOD testing
CERVICAL vertebrae
COLLAGEN
ENZYME-linked immunosorbent assay
GENE expression
GENETIC polymorphisms
METAPLASTIC ossification
GENETIC mutation
POLYMERASE chain reaction
RISK assessment
SPINAL stenosis
WESTERN immunoblotting
REVERSE transcriptase polymerase chain reaction
CHEST (Anatomy)
LONGITUDINAL ligaments
DISEASE risk factors
Subjects
Details
- Language :
- English
- ISSN :
- 1749799X
- Volume :
- 14
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Journal of Orthopaedic Surgery & Research
- Publication Type :
- Academic Journal
- Accession number :
- 140313243
- Full Text :
- https://doi.org/10.1186/s13018-019-1481-6