Unveiling preeclampsia: diagnostic value and potential molecular mechanisms of abnormally methylated immune-related genes

Brazilian Journal of Medical and Biological Research · Published 2026-01-01 · DOI 10.1590/1414-431x2025e15317

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Abstract

Preeclampsia (PE) is a life-threatening obstetric complication, and DNA methylation and immune system disorders play a key role in its development. This study aimed to explore the potential mechanisms and values of abnormally methylated immune-related differentially expressed genes (DEGs) in PE. Gene expression profiles and methylation data of PE were downloaded from the Gene Expression Omnibus (GEO) database. Immune-related genes were downloaded from the ImmPort database. Subsequently, differential expression analysis, functional annotation, immune cell infiltration analysis, Pearson correlation analysis, construction of classification models and miRNA-mRNA interaction network, and real-time PCR validation were carried out. Ten key abnormally methylated immune-related DEGs (ESRRG, FGF10, AHNAK, STC2, PPARG, LTF, MX1, ESR1, RELB, and JAG2) were identified and may be potential diagnostic biomarkers for PE. The decision tree (DT), random forests (RF), and support vector machine (SVM) classification models constructed based on these 10 genes exhibited a certain level of diagnostic accuracy. Compared with a single DEG, these classification models may have relatively higher diagnostic reference value. Functional annotation results showed that rap1, PI3K-Akt, and calcium signaling pathways may play a regulatory role in PE. The infiltration levels of monocytes, M2 macrophages, neutrophils, Tregs, and eosinophils in the PE group were abnormal. Key abnormally methylated immune-related DEGs were significantly correlated with the infiltration levels of immune cells. Moreover, 6 miRNA-mRNA pairs (hsa-miR-181b-5p-ESR1, hsa-miR-152-3p-ESR1, hsa-miR-26b-3p-ESR1, hsa-miR-4672-ESRRG, hsa-miR-502-3p-AHNAK, and hsa-miR-3059-5p-STC2) were identified. Key abnormally methylated immune-related DEGs may be associated with the immune mechanism of PE, given their correlation with related signaling pathways and immune cell infiltration.

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Publication details

Year
2026

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