Department of Orthopedics, Peking University Third Hospital, Beijing 100191, P.R. China.
Center for Pain Medicine, Peking University Third Hospital, Beijing 100191, P.R. China.
Mol Med Rep. 2018 Feb;17(2):2557-2564. doi: 10.3892/mmr.2017.8171. Epub 2017 Nov 28.
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.
后纵韧带骨化症（OPLL）是一种常见于颈椎的脊髓病。相比之下，胸段 OPLL（T-OPLL）较为罕见，但更为严重。先前的研究已经确定了几个与颈椎 OPLL 的发生和发展相关的成骨基因的多态性。然而，很少有遗传研究评估过 T-OPLL。本研究旨在通过对 30 名无血缘关系的中国北方汉族 T-OPLL 患者进行全基因组测序（WGS），鉴定 OPLL 的遗传因素。通过生物信息学分析和致病变异预测算法，在 7 名无血缘关系的患者中发现了两个有害变异[c.1534G>A(p.Gly512Ser)/collagen, type VI, α1 (COL6A1)]和[c.2275C>A(p.Leu759Ile)/inteleukin-17 receptor C (IL17RC)]。这两种突变导致外周血样本中的基因表达水平显著增加。据我们所知，这是首次报道使用全基因组测序分析中国北方汉族人群的 T-OPLL。研究结果揭示了 T-OPLL 患者中两个新的潜在致病突变。
