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Updated: Dec 21, 2025

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Published on: April 30, 2010
Transcriptional profiling to identify the key genes and pathways of pterygium
Yihui Chen1, Haoyu Wang2, Yaping Jiang1
1Department of Ophthalmology, Yangpu Hospital, Tongji University School of Medicine, Shanghai, China.
Purpose:
Pterygium results from a variety of biological pathways that are involved in the formation of ocular surface diseases. However, the exact pathogenesis of pterygium is still unclear. Our study focused on gene expression profiles to better understand the potential mechanisms of pterygium.
Methods:
RNA sequencing experiments were performed on clinical pterygium tissues and normal conjunctival tissues. To identify the hub genes for the development of pterygium, we further conducted weighted gene co-expression network analysis (WGCNA). qRT-PCR was utilized to validate the dysregulation of the most significant differentially expressed genes (DEGs) and key hub genes in the independent subjects.
Results:
A total of 339 DEGs (P-adjusted < 0.05 and log2 fold change [log2FC] ≥ 1.0) were obtained that reached statistical significance with p-values < 0.05. Among them, 200 DEGs were upregulated; these genes were mainly associated with the extracellular matrix and with cell adhesion or migration. In contrast, the 139 downregulated genes were enriched for endocrine and inflammation pathways. With regard to WGCNA, five modules were assigned based on the DEG profiles, and the biological functions of each module were verified with previously published GO terms. The functions included ECM-receptor interactions, the PI3K-Akt signalling pathway and an endoplasmic reticulum (ER)-related pathway. The five hub genes with the highest connectivity in each module and the five most significant DEGs showed dysregulated expression in the independent cohort samples.
Conclusions:
RNA sequencing and WGCNA provided novel insights into the potential regulatory mechanisms of pterygium. The identified DEGs and hub genes, which were classified into two groups according to different functions or signalings, may provide important references for further research on the molecular biology of pterygium.
Insights
This study used RNA sequencing to identify key genes involved in pterygium development, revealing insights into extracellular matrix and inflammation pathways for ocular surface disease research.
Area of Science:
- Ophthalmology and Molecular Biology
- Genomics and Bioinformatics
Background:
- Pterygium is an ocular surface disease with unclear pathogenesis.
- Understanding the molecular mechanisms of pterygium is crucial for developing effective treatments.
Purpose of the Study:
- To investigate the gene expression profiles of pterygium tissues.
- To identify key genes and pathways involved in pterygium development using RNA sequencing and weighted gene co-expression network analysis (WGCNA).
Main Methods:
- RNA sequencing was performed on pterygium and normal conjunctival tissues.
- Weighted gene co-expression network analysis (WGCNA) was used to identify hub genes.
- Quantitative reverse transcription polymerase chain reaction (qRT-PCR) validated gene expression in independent samples.
Main Results:
- 339 differentially expressed genes (DEGs) were identified, with 200 upregulated (extracellular matrix, cell adhesion/migration) and 139 downregulated (endocrine, inflammation pathways).
- WGCNA identified five key modules associated with ECM-receptor interactions, PI3K-Akt signaling, and ER-related pathways.
- Five hub genes and five significant DEGs showed dysregulated expression in independent samples.
Conclusions:
- RNA sequencing and WGCNA offer novel insights into pterygium's molecular mechanisms.
- Identified DEGs and hub genes provide a basis for further research into pterygium's molecular biology.
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