从转录组角度比较分析特发性脊柱侧弯症和先天性脊柱侧弯症的脊柱旁肌肉失衡问题

IF 3.4 3区医学 Q1 ORTHOPEDICS JOR Spine Pub Date : 2024-03-04 DOI:10.1002/jsp2.1318

Zhen Wang, Junduo Zhao, Haining Tan, Yang Jiao, Xin Chen, Jianxiong Shen

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引用次数: 0

摘要

背景以往的研究通过影像学、组织学和肌电图等方法分析了特发性脊柱侧弯症（IS）的脊柱旁肌肉失衡。然而，脊柱旁肌肉失衡是导致特发性脊柱侧弯症脊柱畸形的原因还是结果仍不清楚。比较IS和先天性脊柱侧弯症（CS）的脊柱旁肌肉失衡可能会对脊柱旁肌肉失衡和IS的因果关系有所启发。本研究旨在从基因表达的角度阐明IS和CS脊柱旁肌肉失衡的普遍性和个体性。方法对五对经过手术治疗的 IS 和 CS 患者进行配对。采集双侧脊柱旁顶点肌肉进行转录组测序。确定了IS和CS凸面和凹面之间的差异表达基因（DEGs）。对 IS 和 CS 的 DEGs 进行比较，以区分 IS 特异的 DEGs 和 IS 与 CS 共享的 DEGs。进行了生物信息学分析。在10对IS和CS患者中通过定量PCR（qPCR）验证了IS特异性DEGs的蛋白-蛋白相互作用（PPI）网络中的前10个枢纽基因。结果在 IS 中发现了 370 个 DEGs，而在 CS 中发现了 380 个 DEGs。通过比较 IS 和 CS 的 DEGs，发现 IS 和 CS 共有 59 个 DEGs，IS 特异的 DEGs 有 311 个。这些IS特异的DEGs在GO术语中富集于对外部刺激的反应和信号受体结合，在KEGG通路中富集于钙信号通路。在 IS 特异性 DEGs 的 PPI 网络中，前 10 个枢纽基因包括 BDKRB1、PRH1-TAS2R14、CNR2、NPY4R、HTR1E、CXCL3、ICAM1、ALB、ADIPOQ 和 GCGR。在这些枢纽基因中，通过 qPCR 验证了 PRH1-TAS2R14 和 ADIPOQ 在 IS 中的非对称表达，而在 CS 中则没有。结论 IS 双侧脊柱旁肌肉凸面和凹面的转录组差异与 CS 几乎没有相似之处。

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Comparative analysis of paraspinal muscle imbalance between idiopathic scoliosis and congenital scoliosis from the transcriptome aspect

Background

Previous studies have analyzed paraspinal muscle imbalance in idiopathic scoliosis (IS) with methods including imaging, histology and electromyography. However, whether paraspinal muscle imbalance is the cause or the consequence of spinal deformities in IS remains unclear. Comparison of paraspinal muscle imbalance between IS and congenital scoliosis (CS) may shed some light on the causality of paraspinal muscle imbalance and IS. This study aimed to elucidate the generality and individuality of paraspinal muscle imbalance between IS and CS from gene expression.

Methods

Five pairs of surgical-treated IS and CS patients were matched. Bilateral paraspinal muscles at the apex were collected for transcriptome sequencing. Differentially expressed genes (DEGs) between the convexity and concavity in both IS and CS were identified. Comparison of DEGs between IS and CS was conducted to discriminate IS-specific DEGs from DEGs shared by both IS and CS. Bioinformatics analysis was performed. The top 10 hub genes in the protein–protein interaction (PPI) network of IS-specific DEGs were validated by quantitative PCR (qPCR) in 10 pairs of IS and CS patients.

Results

A total of 370 DEGs were identified in IS, whereas 380 DEGs were identified in CS. Comparison of DEGs between IS and CS identified 59 DEGs shared by IS and CS, along with 311 DEGs specific for IS. These IS-specific DEGs were enriched in response to external stimulus and signaling receptor binding in GO terms and calcium signaling pathway in KEGG pathways. The top 10 hub genes in the PPI network of IS-specific DEGs include BDKRB1, PRH1-TAS2R14, CNR2, NPY4R, HTR1E, CXCL3, ICAM1, ALB, ADIPOQ, and GCGR. Among these hub genes, the asymmetrical expression of PRH1-TAS2R14 and ADIPOQ in IS but not CS were validated by qPCR.