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.

Abstract

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.