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  6. Potentially Functional Variants Of Chmp4a And Panx1 In The Pyroptosis-related Pathway Predict Survival Of Patients With Non-oropharyngeal Head And Neck Squamous Cell Carcinoma

Potentially functional variants of CHMP4A and PANX1 in the pyroptosis-related pathway predict survival of patients with non-oropharyngeal head and neck squamous cell carcinoma

Xiaozhun Tang1,2,3, Huiling Wang1,2,3, Hongliang Liu2,3

  • 1Department of Head and Neck Surgery, The Affiliated Cancer Hospital of Guangxi Medical University, Guangxi Cancer Hospital, Nanning, China.

Molecular Carcinogenesis
|June 11, 2024

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View abstract on PubMed

Summary
This summary is machine-generated.

Genetic variants in pyroptosis pathway genes may predict survival in non-oropharyngeal head and neck squamous cell carcinoma (NON-ORO HNSCC) patients. These variants likely impact gene expression, influencing overall survival outcomes.

Area of Science:

  • Oncology
  • Genetics
  • Immunology

Background:

  • Pyroptosis, a programmed cell death, is crucial in cancer immunity.
  • Triggering pyroptosis can enhance antitumor immune responses.
  • Limited research exists on pyroptosis gene variants and non-oropharyngeal head and neck squamous cell carcinoma (NON-ORO HNSCC) patient outcomes.

Purpose of the Study:

  • To investigate the association between functional variants in pyroptosis-related genes and clinical outcomes in NON-ORO HNSCC patients.
  • To identify specific genetic markers that predict survival in this patient cohort.

Main Methods:

  • An association study involving 985 NON-ORO HNSCC patients, divided into discovery and replication groups.
  • Cox proportional hazards regression analysis to assess gene variant-survival associations.
Keywords:
genome‐wide association studynon‐oropharyngeal head and neck squamous cell carcinomapyroptosis pathwaysingle nucleotide polymorphisms

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  • Bayesian false discovery probability (BFDP) for multiple testing correction and functional annotation of identified variants.
  • Main Results:

    • 202 single-nucleotide polymorphisms (SNPs) in 82 pyroptosis genes passed initial correction, with six significant in replication.
    • Two independent SNPs, CHMP4A rs1997996 and PANX1 rs56175344, significantly predicted overall survival (OS).
    • Unfavorable genotypes correlated with progressively worse OS and disease-specific survival; associated alleles reduced mRNA expression.

    Conclusions:

    • Genetic variants in pyroptosis pathway genes may serve as predictive biomarkers for NON-ORO HNSCC patient survival.
    • These variants likely exert their effect by modulating gene expression.
    • Further validation in larger studies is warranted.
    survival