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Related Experiment Video

Updated: Jun 27, 2025

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Validation of biomarkers and immunotherapy in head and neck squamous cell carcinoma using bioinformatics and

Enhong Xu1, Huanhuan Gu2, He Xu3

  • 1Department of Otolaryngology, Naval Medical Center of People's Liberation Army of China (PLA), Shanghai, China.

The International Journal of Neuroscience
|April 30, 2024
PubMed
Summary
This summary is machine-generated.

This study used Mendelian randomization to find causal links between genes and head and neck squamous cell carcinoma (HNSCC). Key genes like IL1B were identified, offering potential new biomarkers for HNSCC diagnosis and treatment.

Keywords:
DEGsHNSCCMendelian randomizationWGCNAbioinformatics

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Area of Science:

  • Genomics
  • Oncology
  • Molecular Biology

Background:

  • Carcinogenesis involves complex molecular pathways driven by gene expression dysregulation.
  • Head and neck squamous cell carcinoma (HNSCC) is a significant global health concern.
  • Understanding genetic factors influencing HNSCC is crucial for developing targeted therapies.

Purpose of the Study:

  • To investigate causal relationships between genetic factors and HNSCC using Mendelian randomization (MR).
  • To identify key genes and biological pathways implicated in HNSCC development.
  • To explore the potential of identified genes as diagnostic or prognostic biomarkers.

Main Methods:

  • Mendelian randomization (MR) analysis was employed to assess causality.
  • Inverse Variance Weighted (IVW) method served as the primary analytical approach.
  • Complementary MR methods including MR-Egger regression, weighted median, and mode analyses were used for validation.

Main Results:

  • A total of 2210 differentially expressed genes were identified in HNSCC compared to normal tissues.
  • Genes IL1B, CXCL8, CXCL1, and CCL2 emerged as central hubs within the protein interaction network.
  • MR analysis provided evidence for a causal link between IL1B gene expression and HNSCC development.

Conclusions:

  • Five key genes (IL1B, CXCL8, CXCL1, CCL2) show significant expression changes in HNSCC.
  • These genes may serve as novel biomarkers for HNSCC diagnosis and progression monitoring.
  • The findings highlight the role of immune system regulation in HNSCC and suggest new research directions.