Transcriptomics analysis of differential gene expression and immune and inflammatory response mechanisms in patients with typical and non-criteria obstetric antiphospholipid syndrome (OAPS and NC-OAPS)

Abstract

In this study, we investigated the molecular differences between patients with typical obstetric antiphospholipid syndrome (OAPS) and patients with non-criteria obstetric antiphospholipid syndrome (NC-OAPS) patients through transcriptome sequencing of peripheral blood samples from ten OAPS patients and ten NC-OAPS patients. Differentially expressed genes (DEGs) were identified, followed by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses, protein-protein interaction (PPI) analysis, and competitive endogenous RNA (ceRNA) network construction to identify hub genes. Verification was performed via Quantitative Real-time PCR (qPCR) in OAPS (n=9) and NC-OAPS (n=12) samples. We identified 240 DEGs in two groups. GO and KEGG analyses reviewed upregulated in pathways related to the inflammatory response; immune response; antigen processing and presentation; Th1, Th2, and Th17 cell differentiation; and NK cell-mediated cytotoxicity in OAPS patients. PPI and ceRNA network analyses identified key genes, with significant upregulation of CXCR2, JAK2, and MPO found in the OAPS group, which correlated with severe inflammation, JAK-STAT pathway activation, and increased NET activity in neutrophils. Other genes such as CD4, IL2RB, and NKG7, are involved in T-cell and NK cell regulation. Our results indicate enhanced inflammatory and immune responses in OAPS patients, suggesting more severe immune activity than in NC-OAPS patients, providing a basis for precise diagnostic and therapeutic strategies.