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Identification of EPSTI1 as a new potential biomarker for SLE based on GEO database

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Abstract

Objective

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with highly heterogeneous. The aim of this study is to find the key genes in peripheral blood mononuclear cells (PBMCs) of SLE patients and to provide a new direction for the diagnosis and treatment of lupus.

Methods

GSE121239, GSE50772, GSE81622, and GSE144390 mRNA expression profiles were obtained from the website of Gene Expression Omnibus (GEO), and differential expressed genes (DEGs) analysis was performed by R. Then, Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analyses were performed to elucidate signaling pathways for the DEGs. Real-time qPCR (RT-qPCR) was used to verify the key gene EPSTI1 in PBMCs of SLE patients. Finally, the correlation analysis and ROC curve analysis of EPSTI1 for SLE were performed.

Results

A total of 12 upregulated DEGs were identified, including MMP8, MX1, IFI44, EPSTI1, OAS1, OAS3, HERC5, IFIT1, RSAD2, USP18, IFI44L, and IFI27. GO and KEGG pathway enrichment analysis showed that those DEGs were mainly concentrated in the response to virus and IFN signaling pathways. Real-time qPCR (RT-qPCR) revealed that EPSTI1 was increased in PBMCs of SLE. EPSTI1 was positively correlated with SLEDAI score in SLE patients. Besides, EPSTI1 was positively correlated with T cell activation- or differentiation-associated genes (BCL6 and RORC). Furthermore, ROC analyses proved EPSTI1 may have diagnostic value for SLE.

Conclusion

Together, EPSTI1 was found to be a potential biomarker for SLE, closely related to T cell immune imbalance.

Key Points

• EPSTI1 expression was significantly increased in PBMCs of SLE patients.

• EPSTI1 was positively correlated with disease activity and T cell activation- or differentiation-associated genes in SLE patients.

• EPSTI1 might have a good diagnostic value for SLE.

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Data availability

The data used to support the findings of this study is available from GSE121239, GSE50772, GSE81622, and GSE144390.

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Acknowledgements

We thank all the patients who participated in the studies.

Funding

This work was supported by the National Natural Science Foundation of China (Grant No. 81901664, 82070018, 82270097) and Natural Science Foundation of Hunan Province (2020JJ5894).

Author information

Authors and Affiliations

  1. Department of Rheumatology, Xiangya Hospital, Central South University, Changsha, Hunan, China

    Yiying Yang, Huali Zhang & Muyao Guo

  2. Department of Pathophysiology, School of Basic Medicine Science, Central South University, Changsha, Hunan, China

    Yiying Yang & Huali Zhang

  3. Sepsis Translational Medicine Key Lab of Hunan Province, Changsha, Hunan, China

    Yiying Yang & Huali Zhang

  4. Postdoctoral Research Station of Basic Medicine, School of Basic Medicine Science, Central South University, Changsha, Hunan, China

    Yiying Yang

  5. Department of Nutrition, Xiangya Hospital, Central South University, Changsha, Hunan, China

    Xiaoyu Xiao

  6. National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Changsha, Hunan, China

    Xiaoyu Xiao & Muyao Guo

  7. Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital, Changsha, Hunan, China

    Muyao Guo

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  1. Yiying Yang
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Contributions

Yiying Yang conceived and designed the study, performed the experiments, analyzed the data, and drafted this manuscript, as the first author. Xiaoyu Xiao performed the experiments and prepared figures and tables. Muyao Guo and Huali Zhang contributed to the analysis of the data, and revising of the manuscript. All authors have read and approved the final manuscript.

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Correspondence to Xiaoyu Xiao or Muyao Guo.

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Yang, Y., Zhang, H., Xiao, X. et al. Identification of EPSTI1 as a new potential biomarker for SLE based on GEO database. Clin Rheumatol 43, 1531–1540 (2024). https://doi.org/10.1007/s10067-024-06881-z

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  • DOI: https://doi.org/10.1007/s10067-024-06881-z

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