Your browser doesn't support javascript.
loading
A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament.
Wang, Peng; Teng, Ze; Liu, Xiaoguang; Liu, Xiao; Kong, Chao; Lu, Shibao.
Afiliação
  • Wang P; Department of Orthopedics, Xuanwu Hospital of Capital Medical University, 45 Changchun Street, Xicheng, Beijing, 100053, People's Republic of China.
  • Teng Z; Department of Radiology, Cancer Hospital Chinese Academy of Medical Sciences, Beijing, 100021, People's Republic of China.
  • Liu X; Department of Orthopedics, Peking University Third Hospital, Beijing, 100191, People's Republic of China.
  • Liu X; Department of Orthopedics, Peking University Third Hospital, Beijing, 100191, People's Republic of China.
  • Kong C; Department of Orthopedics, Xuanwu Hospital of Capital Medical University, 45 Changchun Street, Xicheng, Beijing, 100053, People's Republic of China.
  • Lu S; Department of Orthopedics, Xuanwu Hospital of Capital Medical University, 45 Changchun Street, Xicheng, Beijing, 100053, People's Republic of China. shibaoluspine@sina.com.
J Orthop Surg Res ; 14(1): 438, 2019 Dec 12.
Article em En | MEDLINE | ID: mdl-31831033
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.
Assuntos
Palavras-chave

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Tipo de estudo: Observational_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Ano de publicação: 2019 Tipo de documento: Article