Chronic spontaneous urticaria (CSU), a mast cell-driven disease, substantially affects the quality of life. While genetics affect CSU susceptibility and severity, the specific genetic factors associated with mast cell activation in CSU remain elusive. We aimed to identify key genetic factors and investigate their roles in CSU pathogenesis. Two gene expression datasets from the Gene Expression Omnibus were merged and validated using principal component analysis and boxplots. The merged dataset was subjected to limma and weighted gene co-expression network analyses. Genes whose expression correlated highly with CSU were identified and analyzed using Gene Set Enrichment Analysis (GSEA), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses. As GSEA, GO, and KEGG analyses highlighted the importance of chemokine (C-C motif) ligand 2 (CCL2) and cholesterol 25-hydroxylase (CH25H) gene and tumor necrosis factor (TNF) signaling pathways in CSU; the three corresponding genes were knocked down in human mast cell line-1 (HMC-1), followed by incubation with thrombin to mimic CSU pathogenesis. CCL2, CH25H, and TNF knockdown reduced excitability and cytokine production in HMC-1. Our findings suggest that genes involved in the CCL2, CH25H, and TNF pathways play crucial roles in CSU pathogenesis, providing insights into potential therapeutic targets for CSU treatment.

Objective: To date, little research has been done to answer whether people with acute leukemia (AL) experience stigma. No previous studies investigated stigma and its relationship with most common negative emotion and coping styles in patients newly diagnosed as AL. Therefore, the study was designed to find out stigma and its possible contributing factors among the patients with initial diagnosis of AL. Methods: A total of 167 patients newly diagnosed as AL were recruited and investigated by Social Impact Scale (SIS), Medical Coping Modes Questionnaire, Hospital Anxiety and Depression Scale. The data was analyzed by multivariate linear regression to identify influencing factors of stigma. Results: The mean score of SIS was 60.61 ± 9.45, with 13.17% of patients at high level. Almost individuals experienced anxiety or depression during first chemotherapy after diagnosis. The main coping strategy was acceptance-resignation. Patients with following characteristics tend to experienced stronger stigma: male, childless, lower family income, higher degree of dependence, having chronic diseases, more severe depression, and tendency to adopt acceptance-resignation. Conclusions: Patients newly diagnosed as AL were in moderate level of stigma. Effective measures were suggested to alleviate stigma the patients undergoing when struggling for complete remission, especially for those exposed to risk factors of stigma.