Department of Orthopedics, Xuanwu Hospital of Capital Medical University, 45 Changchun Street, Xicheng, Beijing, 100053, People's Republic of China.
National Clinical Research Center for Geriatric Diseases, Beijing, 100053, People's Republic of China.
J Orthop Surg Res. 2019 Jul 10;14(1):210. doi: 10.1186/s13018-019-1253-3.
Thoracic ossification of the posterior longitudinal ligament (T-OPLL) can cause thoracic spinal stenosis, which results in intractable myelopathy and radiculopathy. The etiology of T-OPLL is unknown and the condition is difficult to treat surgically. Whole-genome sequencing identified a genetic variant at rs199772854 of the interleukin 17 receptor C (IL17RC) gene as a potentially pathogenic locus associated with T-OPLL. We aimed to determine whether the rs199772854A site mutation causes abnormal expression of the IL17RC in Han Chinese patients with T-OPLL and predict the possible pathogenic mechanisms of T-OPLL. Analyses were performed to determine whether IL17RC is involved in the pathogenicity of T-OPLL.
Peripheral blood and OPLL tissue were collected from a total of 72 patients with T-OPLL disease (36 patients carrying the rs199772854A site mutation in IL17RC and 36 wild-type patients). The expression of IL17RC was analyzed by enzyme-linked immunosorbent assay, reverse transcription-quantitative polymerase chain reaction, immunohistochemistry, and Western blotting.
rs199772854A mutation resulted in markedly increased IL17RC gene expression levels in peripheral blood samples and the OPLL tissue obtained following clinical surgery (P < 0.05).
The results suggest that the rs199772854A site mutation of IL17RC can significantly increase the expression of IL17RC. The IL17RC gene rs199772854A site polymorphism is a potential pathogenic mutation in T-OPLL disease, which may be associated with the occurrence of T-OPLL.
胸段后纵韧带骨化（T-OPLL）可导致胸段脊柱狭窄，进而引起难治性脊髓病和神经根病。T-OPLL 的病因尚不清楚，且该病的手术治疗难度较大。全基因组测序在白细胞介素 17 受体 C（IL17RC）基因的 rs199772854 位点发现了一个遗传变异，该变异可能与 T-OPLL 相关，是一个潜在的致病基因座。我们旨在确定 rs199772854A 位点突变是否导致汉族 T-OPLL 患者的 IL17RC 异常表达，并预测 T-OPLL 的可能致病机制。分析旨在确定 IL17RC 是否参与 T-OPLL 的发病机制。
共收集了 72 例 T-OPLL 患者（36 例患者携带 IL17RC 的 rs199772854A 位点突变，36 例野生型患者）的外周血和 OPLL 组织。通过酶联免疫吸附试验、逆转录定量聚合酶链反应、免疫组织化学和 Western blot 分析 IL17RC 的表达。
rs199772854A 突变导致外周血样本和临床手术后获得的 OPLL 组织中 IL17RC 基因表达水平显著升高（P<0.05）。
这些结果表明，IL17RC 的 rs199772854A 位点突变可显著增加 IL17RC 的表达。IL17RC 基因 rs199772854A 位点多态性是 T-OPLL 疾病的潜在致病突变，可能与 T-OPLL 的发生有关。
