Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients

Wang, Peng; Xiao, Lihua; Zhu, Bin; Ma, Yunlong; Lei, Yong; Teng, Ze; Chen, Liang; He, Guanping; Liu, Xiaoguang

doi:10.1186/s13018-018-0817-y

Cited by 14 publications

(10 citation statements)

References 29 publications

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“…Despite advances in surgical techniques, the treatment of T-OPLL remains challenging. Previous studies conducted by our group identified the rs201153092A mutation site in the COL6A1 gene as a potentially pathogenic genetic locus for T-OPLL (26,27). The present study revealed the functional impact of the rs201153092A mutation of the COL6A1 gene.…”

Section: Discussionsupporting

confidence: 64%

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The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament

et al. 2019

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Thoracic ossification of the posterior longitudinal ligament (T-OPLL) is one of the most common factors that causes thoracic spinal stenosis, resulting in intractable myelopathy and radiculopathy. Our previous study reported that the rs201153092 polymorphism present in the collagen 6A1 (COL6A1) gene was a potentially pathogenic locus for the development of T-OPLL. The present study aimed to determine whether the rs201153092 mutation causes abnormal expression of COL6A1 in Han Chinese patients with T-OPLL, and to examine the effects of this mutation on osteogenesis by establishing a model of osteogenic differentiation. COL6A1 gene mutant and wild-type mouse 3T3-E1 embryonic osteoblast models were constructed to induce the differentiation of these cells into osteoblasts. The potential of the mutation site to induce abnormal expression of the COL6A1 gene and osteogenic markers was assessed via reverse transcription-quantitative PCR and western blot analyses. The results demonstrated that the rs201153092A mutation site resulted in significantly increased COL6A1 gene expression levels in the OPLL tissues obtained following clinical surgery. This mutation was shown to play an important role in the development of T-OPLL by regulating the overexpression of the COL6A1 gene and significantly increasing the expression levels of osteogenic markers. The findings of the present study suggested that the rs201153092A mutant variant could increase the expression levels of COL6A1 and consequently play a role in the pathogenesis of T-OPLL.

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Section: Discussionsupporting

confidence: 64%

“…However, few studies have assessed the contribution of T-OPLL susceptibility genes. Previous studies have shown that genetic factors may also play an important role in the development of T-OPLL, the rs201153092A mutation site in the collagen 6A1 (COL6A1) gene was identified as a susceptibility locus for T-OPLL (26,27).…”

Section: Introductionmentioning

confidence: 99%

The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament

et al. 2019

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“…Our recent whole-genome sequencing study identified that rs199772854 in the IL17 receptor C ( IL17RC) gene is a potentially pathogenic loci for T-OPLL (24). In addition, our case-controlled association study confirmed that this mutation was potentially associated with susceptibility to T-OPLL in individuals of Chinese Han ethnicity (25).…”

Section: Introductionsupporting

confidence: 70%

Potential role of the IL17RC gene in the thoracic ossification of the posterior longitudinal ligament

et al. 2019

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The thoracic ossification of the posterior longitudinal ligament (T-OPLL) can cause thoracic spinal stenosis, which results in intractable myelopathy and radiculopathy. Our previous whole-genome sequencing study first reported rs199772854 in the interleukin 17 receptor C ( IL17RC ) gene as a potentially pathogenic loci for T-OPLL. The aim of the present study was to examine the effects of the IL17RC gene rs199772854A site mutation on osteogenesis by establishing a model of osteogenic differentiation. IL17RC gene mutation site and wild-type site mouse embryonic osteoblast (3T3-E1) models were constructed in order to induce the differentiation of the cells into osteoblasts. Whether the mutation site causes the abnormal expression of the IL17RC gene and osteogenic markers was analyzed by reverse transcription-quantitative polymerase chain reaction (RT-qPCR) and western blot analysis. The IL17RC gene rs199772854A site mutation was demonstrated to play a biological role through the overexpression of its own gene, and also to significantly increase the expression levels of osteogenic markers. Furthermore, the mutation upregulated the expression of the key proteins, tumor necrosis factor receptor (TNFR)-associated factor 6 (TRAF6) and nuclear factor (NF)-κB, in the interleukin (IL)-17 signaling axis. On the whole, the findings of this study suggest that the IL17RC gene rs199772854A loci mutation propels mouse embryonic osteoblasts towards osteogenic differentiation and may play an important role in the pathogenesis of T-OPLL. The IL17RC gene may promote osteogenesis through the IL-17 signaling pathway and may thus be involved in the process of ectopic osteogenesis in T-OPLL.

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“…[ 3 7 ] Multiple genetic factors contribute to thoracic OPLL (T-OPLL); rs201153092 and rs13051496 in the COL6A1 gene; and rs199772854, rs76999397, and rs189013166 in the IL17RC gene. [ 8 ] Although T-OPLL typically presents as a slowly progressive condition, up to 10% may become acutely symptomatic from severe spinal cord compression. [ 5 7 ]…”

Section: Discussionmentioning

confidence: 99%

A rare cause of thoracic cord compression

Teixeira¹,

Ferreira²,

Abreu³

et al. 2018

Surg Neurol Int

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Background:The posterior longitudinal ligament (PLL) extends from the foramen magnum to the sacrum. In some cases, it becomes calcified/ossified; the term for this is ossification of the PLL (OPLL).Case Description:A 50-year-old female presented with acute sphincter dysfunction and paraparesis attributed to T2–T4 OPLL. The patient underwent a C7-T5 laminectomy to decompress the spinal cord. After 1 postoperative week, and certainly by 6 months postoperatively, the patient's motor and sensory deficits showed improvement.Conclusion:Surgery for thoracic OPLL includes laminoplasty, laminectomy with/without fusion, anterior decompression through a posterior approach (transpedicular, costotransversectomy), and circumferential decompression (e.g. combined anterior/posterior approaches). In cases like the one presented, patients who originally present with acute paraparesis/sphincter dysfunction may demonstrate postoperative improvement.

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Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients

Cited by 14 publications

References 29 publications

The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament

The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament

Potential role of the IL17RC gene in the thoracic ossification of the posterior longitudinal ligament

A rare cause of thoracic cord compression

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