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Identification and validation of susceptibility modules and hub genes in polyarticular juvenile idiopathic arthritis
Junfeng Liu1,2, Jianhui Fan3, Hongxiang Duan4
1Department of Orthopedics, Dazhou Central Hospital, Dazhou, China.
Insights
This study identified four key genes (PHLDA1, EGR3, CXCL2, PF4V1) associated with juvenile idiopathic arthritis (JIA) progression. These genes show promise as biomarkers for early diagnosis and personalized treatment of JIA.
Area of Science:
- Immunology
- Genetics
- Computational Biology
Background:
- Juvenile idiopathic arthritis (JIA) is a chronic autoimmune childhood disease causing joint inflammation and potential long-term damage.
- Early identification of prognostic factors is crucial for effective management and preventing joint deterioration.
Purpose of the Study:
- To identify genes linked to the progression and prognosis of polyarticular JIA.
- To enhance clinical diagnosis and treatment strategies for JIA patients.
Main Methods:
- Analysis of the Gene Expression Omnibus (GEO) dataset GSE1402 for differentially expressed genes (DEGs) in JIA polyarticular patients.
- Application of Weighted Gene Co-expression Network Analysis (WGCNA) and protein-protein interaction (PPI) networks to identify key gene modules and hub genes.
- Utilized random forest models for biomarker screening and ROC curves for validation, alongside GO and KEGG pathway analysis.
Main Results:
- Identified PHLDA1, EGR3, CXCL2, and PF4V1 as significantly associated with JIA polyarticular progression and prognosis.
- These genes demonstrated high diagnostic and prognostic assessment value in the study.
- Functional enrichment analysis highlighted potential JIA-related pathways.
Conclusions:
- PHLDA1, EGR3, CXCL2, and PF4V1 serve as potential molecular biomarkers for JIA polyarticular.
- These biomarkers offer valuable insights for early diagnosis and personalized treatment approaches.
- Further research can leverage these findings for improved JIA patient outcomes.
Background:
Juvenile idiopathic arthritis (JIA), superseding juvenile rheumatoid arthritis (JRA), is a chronic autoimmune disease affecting children and characterized by various types of childhood arthritis. JIA manifests clinically with joint inflammation, swelling, pain, and limited mobility, potentially leading to long-term joint damage if untreated. This study aimed to identify genes associated with the progression and prognosis of JIA polyarticular to enhance clinical diagnosis and treatment.
Methods:
We analyzed the gene expression omnibus (GEO) dataset GSE1402 to screen for differentially expressed genes (DEGs) in peripheral blood single nucleated cells (PBMCs) of JIA polyarticular patients. Weighted gene co-expression network analysis (WGCNA) was applied to identify key gene modules, and protein-protein interaction networks (PPIs) were constructed to select hub genes. The random forest model was employed for biomarker gene screening. Functional enrichment analysis was conducted using David's online database, gene ontology (GO), and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis to annotate and identify potential JIA pathways. Hub genes were validated using the receiver operating characteristic (ROC) curve.
Results:
PHLDA1, EGR3, CXCL2, and PF4V1 were identified as significantly associated with the progression and prognosis of JIA polyarticular phenotype, demonstrating high diagnostic and prognostic assessment value.
Conclusion:
These genes can be utilized as potential molecular biomarkers, offering valuable insights for the early diagnosis and personalized treatment of JIA polyarticular patients.
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