Mendelian randomization combined with transcriptome identification of key causative genes in systemic lupus erythematosus

Corresponding author: ZHANG Yuzhe, lzuzyz1568@hotmail.com

DOI: 10.12201/bmr.202502.00062

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  Abstract: Objective: Systemic lupus erythematosus (SLE) is a chronic diffuse connective tissue disease caused by abnormal activation of the immune system. Therefore, it is of great significance to explore the potential pathogenic genes of SLE. Methods: We analyzed four independent SLE datasets from the Gene Expression Omnibus（GEO）database. The evaluation of the relationship between differentially expressed genes (DEGs) and SLE included differential expression analysis, expression quantitative trait loci (eQTL) analysis, and Mendelian randomization (MR) analysis. Additionally, Gene Set Enrichment Analysis (GSEA) and Gene Ontology (GO)/Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment assays were used to explore the functional roles and pathways of these genes. Finally, the reliability of key genes was verified using an independent GEO dataset. Results: We initially identified 126 up-regulated DEGs and 204 down-regulated DEGs. MR analysis identified five co-expressed key genes associated with SLE, including EIF2AK2, IFI44, IFI44L, IFIT1, and TCP11L2. In addition, CIBERSORT analysis showed the presence of a unique distribution of immune cells in SLE. Finally, the validation cohort was consistent with the MR analysis results, which enhanced the reliability of the MR results. Conclusion: The five key genes may be potential biomarkers of SLE, and TCP11L2 expression reduces the risk of SLE.

  Key words: Systemic lupus erythematosus; differentially expressed genes; eQTL analysis; Mendelian randomization; immune cell infiltration; TCP11L2

  Submit time: 28 February 2025

  Copyright: The copyright holder for this preprint is the author/funder, who has granted biomedRxiv a license to display the preprint in perpetuity.
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