Expression profile analysis reveals hub genes that are associated with immune system dysregulation in primary
Haotian Ma1, Jincen Liu1, Zilong Li2
1College of Forensic Science, Xi'an Jiaotong University, Xi'an, People's Republic of China.
Objection:
Primary myelofibrosis (PMF) is a familiar chronic myeloproliferative disease with an unfavorable prognosis. The effect of infection on the prognosis of patients with PMF is crucial. Immune system dysregulation plays a central role in the pathophysiology of PMF. To date, very little research has been conducted on the molecular mechanism of immune compromise in patients with PMF.
Methods:
To explore potential candidate genes, microarray datasets GSE61629 and 26049 were obtained from the Gene Expression Omnibus (GEO) database. The differentially expressed genes (DEGs) between PMF patients and normal individuals were evaluated, gene function was measured and a series of hub genes were identified. Several significant immune cells were selected via cell type enrichment analysis. The correlation between hub genes and significant immune cells was determined.
Results:
A total of 282 DEGs were found, involving 217 upregulated genes and 65 downregulated genes. Several immune cells were found to be reduced in PMF, such as CD4+ T cells, CD4+ Tems, CD4+ memory T cells. Gene Ontology (GO) enrichment analysis of DEGs reflected that most biological processes were associated with immune processes. Six hub genes, namely, HP, MPO, MMP9, EPB42, SLC4A1, and ALAS2, were identified, and correlation analysis revealed that these hub genes have a negative correlation with immune cell abundance.
Conclusions:
Taken together, the gene expression profile of whole blood cells in PMF patients indicated a battery of immune events, and the DEGs and hub genes might contribute to immune system dysregulation.
Insights
Primary myelofibrosis (PMF) involves immune system dysregulation. This study identified key genes (DEGs) and hub genes in PMF patients, revealing a negative correlation with immune cell abundance, potentially explaining immune compromise.
Area of Science:
- Hematology
- Immunology
- Genomics
Background:
- Primary myelofibrosis (PMF) is a chronic myeloproliferative neoplasm associated with poor prognosis.
- Immune system dysregulation is central to PMF pathophysiology.
- The molecular mechanisms underlying immune compromise in PMF remain poorly understood.
Purpose of the Study:
- To identify differentially expressed genes (DEGs) and hub genes in PMF patients.
- To investigate the relationship between gene expression and immune cell populations in PMF.
- To elucidate the molecular basis of immune dysfunction in PMF.
Main Methods:
- Microarray datasets (GSE61629, GSE26049) from the Gene Expression Omnibus (GEO) database were analyzed.
- Differentially expressed genes (DEGs) between PMF patients and healthy controls were identified.
- Gene Ontology (GO) enrichment analysis and cell type enrichment analysis were performed to identify hub genes and immune cell alterations.
Main Results:
- A total of 282 DEGs were identified, including 217 upregulated and 65 downregulated genes.
- Significant reductions in immune cells such as CD4+ T cells were observed in PMF patients.
- Six hub genes (HP, MPO, MMP9, EPB42, SLC4A1, ALAS2) were identified and showed a negative correlation with immune cell abundance.
Conclusions:
- The gene expression profile in PMF whole blood cells reveals extensive immune system alterations.
- The identified DEGs and hub genes may play a significant role in the immune dysregulation observed in primary myelofibrosis.


