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儿童系统性红斑狼疮中受基因影响的免疫相关转录组的生物信息学分析

Bioinformatic analysis of immune-related transcriptome affected by gene in childhood systemic lupus erythematosus.

作者信息

Li Hongai, Wang Teng, Li Bangtao, Huang Ting, Hai Yuanping, Huang Chuican, Xiang Wei

机构信息

Department of Pediatrics, Hainan Women and Children's Medical Center (Children's Hospital Affiliated to Hainan Medical University), Haikou, China.

Department of Pediatrics, Hainan General Hospital, Haikou, China.

出版信息

Transl Pediatr. 2023 Aug 30;12(8):1517-1526. doi: 10.21037/tp-23-365. Epub 2023 Aug 21.

Abstract

BACKGROUND

The interferon-induced protein with tetratricopeptide repeats 1 (IFIT1) gene is strongly associated with disease activity index of childhood systemic lupus erythematosus (SLE). However, whether -regulated gene expression is the molecular basis of the pathogenesis of SLE has not been fully investigated.

METHODS

Dataset GSE11909 was used to analyze the expression profiles of gene in 103 SLE cases and 12 healthy individuals. Differentially expressed genes (DEGs)-affected by gene were screened between the case group and control group, followed by gene function analysis. The clinical diagnostic potential of the least absolute shrinkage and selection operator (LASSO) model, established based on the expression profiles of and -affected DEGs, was evaluated. Analysis of association between -affected DEGs and immune infiltration was performed.

RESULTS

was highly expressed in childhood SLE patients. and -affected DEGs showed the potential to serve as a diagnostic marker for childhood SLE with area under the curve (AUC) value of 0.947. Childhood SLE patients showed 826 upregulated DEGs and 4,111 downregulated DEGs compared to the control group. Among them, 208 upregulated DEGs and 214 downregulated DEGs were identified in the -high group compared to the -low group. The LASSO model for the diagnosis of childhood SLE involved 7 marker genes that were related to immune checkpoint and tertiary lymphoid structure in SLE.

CONCLUSIONS

Our results confirmed the clinical diagnostic potential of and -affected genes in childhood SLE. Moreover, this study elucidated that -induced changes in the transcriptome are involved in immune checkpoint and tertiary lymphoid structure in childhood.

摘要

背景

含四肽重复序列的干扰素诱导蛋白1(IFIT1)基因与儿童系统性红斑狼疮(SLE)的疾病活动指数密切相关。然而,基因调控的基因表达是否为SLE发病机制的分子基础尚未得到充分研究。

方法

使用数据集GSE11909分析103例SLE病例和12名健康个体中该基因的表达谱。在病例组和对照组之间筛选受该基因影响的差异表达基因(DEG),随后进行基因功能分析。评估基于该基因和受其影响的DEG表达谱建立的最小绝对收缩和选择算子(LASSO)模型的临床诊断潜力。进行受该基因影响的DEG与免疫浸润之间的关联分析。

结果

该基因在儿童SLE患者中高表达。该基因和受其影响的DEG显示出作为儿童SLE诊断标志物的潜力,曲线下面积(AUC)值为0.947。与对照组相比,儿童SLE患者有826个上调的DEG和4111个下调的DEG。其中,与该基因低表达组相比,该基因高表达组中鉴定出208个上调的DEG和214个下调的DEG。用于诊断儿童SLE的LASSO模型涉及7个与SLE中的免疫检查点和三级淋巴结构相关的标志物基因。

结论

我们的结果证实了该基因和受其影响的基因在儿童SLE中的临床诊断潜力。此外,本研究阐明了该基因诱导的转录组变化与儿童期的免疫检查点和三级淋巴结构有关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/32f5/10485643/8664f461b96b/tp-12-08-1517-f1.jpg

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