Identification of susceptibility loci for thoracic ossification of the posterior longitudinal ligament by whole-genome sequencing

  • Authors:
    • Peng Wang
    • Xiao Liu
    • Bin Zhu
    • Yunlong Ma
    • Lei Yong
    • Ze Teng
    • Yongqiang Wang
    • Chen Liang
    • Guanping He
    • Xiaoguang Liu
  • View Affiliations

  • Published online on: November 28, 2017     https://doi.org/10.3892/mmr.2017.8171
  • Pages: 2557-2564
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Abstract

Ossification of the posterior longitudinal ligament (OPLL) is a myelopathy commonly observed in the cervical spine. By contrast, thoracic OPLL (T‑OPLL) is rare but more severe. Previous studies have identified several polymorphisms in osteogenic genes that are associated with the occurrence and development of cervical OPLL. However, few genetic studies have evaluated T‑OPLL. The present study aimed to identify the genetic factors for OPLL by performing whole‑genome sequencing (WGS) in 30 unrelated northern Chinese Han patients with T‑OPLL. Using bioinformatics analyses and damaging‑variant prediction algorithms, two deleterious variants [c.1534G>A(p.Gly512Ser)/collagen, type VI, α1 (COL6A1)] and [c.2275C>A(p.Leu759Ile)/inteleukin-17 receptor C (IL17RC)] were identified in seven unrelated patients. These two mutations resulted in markedly increased gene expression levels in peripheral blood samples. To the best of our knowledge, this is the first report to describe the use of WGS analysis of T‑OPLL in the northern Chinese Han population. The results revealed two novel potentially pathogenic mutations in patients with T‑OPLL.
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February-2018
Volume 17 Issue 2

Print ISSN: 1791-2997
Online ISSN:1791-3004

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Spandidos Publications style
Wang P, Liu X, Zhu B, Ma Y, Yong L, Teng Z, Wang Y, Liang C, He G, Liu X, Liu X, et al: Identification of susceptibility loci for thoracic ossification of the posterior longitudinal ligament by whole-genome sequencing. Mol Med Rep 17: 2557-2564, 2018
APA
Wang, P., Liu, X., Zhu, B., Ma, Y., Yong, L., Teng, Z. ... Liu, X. (2018). Identification of susceptibility loci for thoracic ossification of the posterior longitudinal ligament by whole-genome sequencing. Molecular Medicine Reports, 17, 2557-2564. https://doi.org/10.3892/mmr.2017.8171
MLA
Wang, P., Liu, X., Zhu, B., Ma, Y., Yong, L., Teng, Z., Wang, Y., Liang, C., He, G., Liu, X."Identification of susceptibility loci for thoracic ossification of the posterior longitudinal ligament by whole-genome sequencing". Molecular Medicine Reports 17.2 (2018): 2557-2564.
Chicago
Wang, P., Liu, X., Zhu, B., Ma, Y., Yong, L., Teng, Z., Wang, Y., Liang, C., He, G., Liu, X."Identification of susceptibility loci for thoracic ossification of the posterior longitudinal ligament by whole-genome sequencing". Molecular Medicine Reports 17, no. 2 (2018): 2557-2564. https://doi.org/10.3892/mmr.2017.8171