Wang Yi, Dai Guogang, Wang Lanjie, Shang Fangru, Jiang Ling, Li Shengwu, Huang Lei, Xia Jiao, Wei Hao
Cervicodynia/Omalgia/Lumbago/Sciatica Department 2, Sichuan Provincial Orthopedic Hospital, Chengdu, China.
Postgraduate School, Chengdu Sport Institute, Chengdu, China.
Genet Test Mol Biomarkers. 2019 Sep;23(9):610-617. doi: 10.1089/gtmb.2019.0043. Epub 2019 Aug 1.
This study was designed to investigate differentially expressed genes (DEGs) in the annulus fibrosus (AF), nucleus pulposus (NP), and whole blood (WB) of intervertebral disk degeneration (IDD) patients. We retrieved microarray data set GSE70362, which contains the gene expression profiles of 24 AF and 24 NP samples from the Gene Expression Omnibus and identified DEGs in degenerative AF (AF-DEGs) and NP (NP-DEGs) samples compared with nondegenerative samples. We also examined gene expression profiles in WB from patients with IDD and healthy volunteers to identify DEGs in WB (WB-DEGs). We performed functional analyses on the DEGs common to AF-DEGs, NP-DEGs, and WB-DEGs. Expression of the common DEGs was partially validated by quantitative real-time-polymerase chain reaction (QRT-PCR). In total, 846 AF-DEGs, 902 NP-DEGs, and 862 WB-DEGs were identified, and 22 DEGs were common among the three groups. Functional analyses showed that the common DEGs were enriched in 33 biological processes, 16 cellular components, 4 molecular functions, and 9 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways; 13 of the common DEGs were included in the protein-protein interaction (PPI) network and superoxide dismutase 2 () was identified as a hub gene in the PPI network. The QRT-PCR results for the expression of the genes protein disulfide isomerase family A member 4, FKBP prolyl isomerase 11, ectonucleotide pyrophosphatase/phosphodiesterase 4, , and actin binding LIM protein 1, were consistent with the gene chip hybridization results. This study identified key genes for future investigations of the underlying molecular mechanisms of IDD. These genes may provide future targets for the clinical treatment and diagnosis of IDD.
本研究旨在调查椎间盘退变（IDD）患者的纤维环（AF）、髓核（NP）和全血（WB）中的差异表达基因（DEG）。我们检索了基因表达综合数据库中的微阵列数据集GSE70362，其中包含24个AF样本和24个NP样本的基因表达谱，并与非退变样本相比，鉴定了退变AF（AF-DEG）和NP（NP-DEG）样本中的DEG。我们还检查了IDD患者和健康志愿者WB中的基因表达谱，以鉴定WB中的DEG（WB-DEG）。我们对AF-DEG、NP-DEG和WB-DEG共有的DEG进行了功能分析。通过定量实时聚合酶链反应（QRT-PCR）对共有的DEG的表达进行了部分验证。总共鉴定出846个AF-DEG、902个NP-DEG和862个WB-DEG，三组之间共有22个DEG。功能分析表明，共有的DEG在33个生物学过程、16个细胞成分、4个分子功能和9条京都基因与基因组百科全书（KEGG）途径中富集；13个共有的DEG包含在蛋白质-蛋白质相互作用（PPI）网络中，超氧化物歧化酶2（）被鉴定为PPI网络中的枢纽基因。蛋白质二硫键异构酶家族A成员4、FKBP脯氨酰异构酶11、胞外核苷酸焦磷酸酶/磷酸二酯酶4、和肌动蛋白结合LIM蛋白1基因表达的QRT-PCR结果与基因芯片杂交结果一致。本研究确定了未来研究IDD潜在分子机制的关键基因。这些基因可能为IDD的临床治疗和诊断提供未来的靶点。
