[1]郭文涛,郜赵伟,刘 研,等.基于GEO数据库分析筛选系统性红斑狼疮与干燥综合征共有差异表达基因及验证[J].现代检验医学杂志,2025,40(01):38-42+58.[doi:10.3969/j.issn.1671-7414.2025.01.007]
　GUO Wentao,GAO Zhaowei,LIU Yan,et al.Screening and Identification of the Shared Differentially Expressed Genes in Systemic Lupus Erythematosus and Sjogren’s Syndrome Based on GEO Database[J].Journal of Modern Laboratory Medicine,2025,40(01):38-42+58.[doi:10.3969/j.issn.1671-7414.2025.01.007]
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基于GEO数据库分析筛选系统性红斑狼疮与干燥综合征共有差异表达基因及验证()
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《现代检验医学杂志》[ISSN:/CN:]

卷:
第40卷
期数:
2025年01期
页码:
38-42+58
栏目:
论著
出版日期:
2025-01-15

文章信息/Info

Title:
Screening and Identification of the Shared Differentially Expressed Genes in Systemic Lupus Erythematosus and Sjogren’s Syndrome Based on GEO Database
文章编号:
1671-7414（2025）01-038-06
作者:
郭文涛1; 2; 郜赵伟2; 刘 研2; 刘 丽2; 王 希2; 鲁广建1; 焦路阳1
（1. 新乡医学院第一附属医院，河南新乡453100；2. 空军军医大学第二附属医院检验科，西安 710038）
Author(s):
GUO Wentao1; 2; GAO Zhaowei2; LIU Yan2; LIU Li2; WANG Xi2; LU Guangjian1; JIAO Luyang1
（1. the First Affiliated Hospital of Xinxiang Medical University，Henan Xinxiang 453100，China；2.Department of Clinical Laboratory，the Second Affliated Hospital of Air Force Medical University，Xi’an 710038，China）
关键词:
系统性红斑狼疮; 舍格伦综合征; 差异表达基因; 生物信息学分析
分类号:
R593.241；R593.2；Q786
DOI:
10.3969/j.issn.1671-7414.2025.01.007
文献标志码:
A
摘要:
目的 基于基因表达综合数据库(GEO)，筛选系统性红斑狼疮（SLE）和干燥综合征（又称舍格伦综合征，SS）中共有的差异表达基因，进行功能分析并鉴定其表达水平，探索SLE 和SS 的潜在发病机制。方法 在GEO 数据库中检索SLE 和SS 全血样本基因表达数据集，下载使用GSE50772，GSE81622，GSE84844 和GSE48378 数据集，分别筛选SLE，SS 外周血细胞差异表达基因，在此基础上筛选出SLE，SS 共有差异表达基因。采用基因本体论（GO）分析和京都基因与基因组百科全书(KEGG) 对差异表达基因进行功能分析。收集2024 年3 ～ 4 月就诊于空军军医大学第二附属医院，明确诊断为SLE 和SS 的患者及健康对照组外周血样本各10 例，利用实时荧光定量PCR 鉴定最显著的11 个差异表达基因表达水平。结果 SLE 和SS 分别筛选出232 个和110 个差异表达基因，其中SLE 和SS 共有的差异表达基因有32 个，表达水平均上调。功能分析显示，32 个共有差异表达基因主要在与干扰素信号通路、对病毒的防御应答、对病毒的应答、对病毒基因组复制的负调控和免疫应答相关的生物学进程中富集。KEGG 通路分析显示32 个差异表达基因与病毒感染过程有关。临床样本鉴定结果显示，OAS3，IFI44，IFI44L 及EPSTI1 表达水平在SLE 和SS 患者外周血单核细胞（PBMC）中均显著升高（均P ＜ 0.05）。结论 与干扰素信号及病毒感染应答相关的生物学过程的改变在SLE 和SS 中均起关键作用，可能是SLE 及SS 的易感因素和潜在生物标志物。
Abstract:
Objective To explore the potential pathogenesis of SLE and SS based on GEO database with screening differential expression genes common in systemic lupus erythematosus (SLE) and Sjogren’s syndrome (SS), analyzing their functions and identifing their expression levels. Methods The gene expression datasets of SLE and SS whole blood samples were retrieved from GEO database. Differential expression genes in peripheral blood cells of SLE and SS were screened using gene expression datasets GSE50772, GSE81622, GSE84844 and GSE48378, respectively, and the shared differential expression genes of SLE and SS were screened. Functional analysis of differentially expressed genes was performed using Gene Ontology (GO) analysis and the Kyoto Encyclopedia of Genes and Genomes (KEGG). Peripheral blood from SLE and SS patients and healthy controls were collected from March 2024 to April 2024, recruited from the Second Affiliated Hospital of Air Force Medical University. Quantitative fluorescence real-time PCR (qRT-PCR) was used to identify the expression levels of 11 genes with the most significant differences in expression. Results 232 and 110 differentially expressed genes were screened for SLE and SS, respectively, among which 32 genes shared by SLE and SS were up-regulated in expression levels. Functional analysis showed that the 32 differentially expressed genes were mainly enriched in biological processes related to interferon (IFN) signaling pathways, defense response to viruses, response to viruses, negative regulation of viral genome replication, and immune response. KEGG pathway analysis showed that 32 differentialy expressed genes were associated with the process of viral infection. The clinical sample identification results showed that the expression levels of OAS3, IFI44, IFI44L and EPSTI1 were significantly elevated in PBMC of SLE and SS patients. Conclusion This study suggested that changes in biological processes related to IFN signal and viral infection response play important roles in both SLE and SS development, and may be a predisposing factor and potential biomarker for SLE and SS.

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备注/Memo

备注/Memo:
作者简介：郭文涛(1990- )，男，硕士，检验技师，主要从事临床检验诊断学及免疫学相关研究，E-mail：guowentao2012@139.com。
通讯作者：焦路阳(1971- )，男，本科，主任技师，主要从事肾脏早期损伤机制及实验室管理研究，E-mail：jiaoluyang2009@163.com。
更新日期/Last Update: 2025-01-15