BACKGROUND Lupus nephritis (LN) is a common complication of systemic lupus erythematosus that presents a high risk of end-stage renal disease. In the present study, we used CIBERSORT and gene set enrichment analysis (GSEA) of gene expression profiles to identify immune cell infiltration characteristics and related core genes in LN. RESULTS Datasets from the Gene Expression Omnibus, GSE32591 and GSE113342, were downloaded for further analysis. The GSE32591 dataset, which included 32 LN glomerular biopsy tissues and 14 glomerular tissues from living donors, was analyzed by CIBERSORT. Different immune cell types in LN were analyzed by the Limma software. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis based on GSEA were performed by clusterProfiler software. Lists of core genes were derived from Spearman correlation between the most significant GO term and differentially expressed immune cell gene from CIBERSORT. GSE113342 was employed to validate the association between selected core genes and clinical manifestation. Five types of immune cells revealed important associations with LN, and monocytes emerged as having the most prominent differences. GO and KEGG analyses indicated that immune response pathways are significantly enriched in LN. The Spearman correlation indicated that 15 genes, including FCER1G, CLEC7A, MARCO, CLEC7A, PSMB9, and PSMB8, were closely related to clinical features. CONCLUSIONS This study is the first to identify immune cell infiltration with microarray data of glomeruli in LN by using CIBERSORT analysis and provides novel evidence and clues for further research of the molecular mechanisms of LN.

中文翻译：

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狼疮性肾炎免疫细胞浸润特征及相关核心基因：生物信息学分析结果

背景狼疮性肾炎（LN）是系统性红斑狼疮的常见并发症，存在终末期肾病的高风险。在本研究中，我们使用 CIBERSORT 和基因表达谱的基因集富集分析（GSEA）来识别 LN 中的免疫细胞浸润特征和相关核心基因。结果 下载基因表达综合数据库 GSE32591 和 GSE113342 的数据集以进行进一步分析。GSE32591 数据集包括 32 个 LN 肾小球活检组织和 14 个来自活体捐赠者的肾小球组织，由 CIBERSORT 进行分析。Limma 软件分析了 LN 中的不同免疫细胞类型。利用clusterProfiler软件进行基于GSEA的基因本体论（GO）和京都基因与基因组百科全书（KEGG）通路分析。核心基因列表源自最重要的 GO 术语与 CIBERSORT 差异表达免疫细胞基因之间的 Spearman 相关性。GSE113342用于验证所选核心基因与临床表现之间的关联。五种类型的免疫细胞揭示了与 LN 的重要关联，其中单核细胞具有最显着的差异。GO 和 KEGG 分析表明，LN 中的免疫反应途径显着富集。Spearman相关性表明FCER1G、CLEC7A、MARCO、CLEC7A、PSMB9和PSMB8等15个基因与临床特征密切相关。结论本研究首次利用CIBERSORT分析方法对LN肾小球微阵列数据进行免疫细胞浸润鉴定，为进一步研究LN的分子机制提供了新的证据和线索。