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Functional genetic variants in immune-checkpoint molecules and susceptibility to Nasopharyngeal carcinoma in a

Wejden Gharbi1, Wicem Siala2, Olfa Abida3

  • 1Autoimmunity, Cancer, and Immunogenetics Research Laboratory (LR18SP12), Immunology Department, Habib Bourguiba University Hospital, Sfax, Tunisia. gharbi.wejden1995@gmail.com.

Molecular Biology Reports
|December 29, 2025
PubMed
Abstract

Insights

Genetic variations in CTLA-4 (rs231775) and CD274 (rs2890658) are associated with increased nasopharyngeal carcinoma (NPC) risk in Tunisia. These findings highlight potential genetic predisposition factors for NPC.

Area of Science:

  • Immunogenetics
  • Cancer Epidemiology
  • Molecular Biology

Background:

  • Immune checkpoint pathways (CTLA-4, PD-1, PD-L1) are crucial in cancer therapy.
  • Genetic variations in these pathways can influence cancer risk and treatment outcomes.

Purpose of the Study:

  • To investigate the association between common immune gene polymorphisms and nasopharyngeal carcinoma (NPC) susceptibility in Tunisia.
  • To identify specific genetic markers that may predispose individuals to NPC.

Main Methods:

  • A case-control study involving 61 Tunisian NPC patients and 150 healthy controls.
  • Analysis of six polymorphisms in CTLA-4, PDCD1, and CD274 genes using PCR-RFLP.
  • Statistical analysis including genotype, haplotype, and phenotype-genotype associations.

Main Results:

  • The CTLA-4 rs231775 AA genotype showed a significant association with increased NPC susceptibility (OR=2.5).
  • A specific risk haplotype (rs231775-A, rs3087243-A, rs36084323-G, rs2227982-C, rs2227981-C) was more prevalent in NPC patients (OR=1.64).
  • The CD274 rs2890658 CC genotype was strongly associated with increased NPC risk (OR=3.2), with the C allele conferring a 2.4-fold higher risk.

Conclusions:

  • CTLA-4 rs231775 AA and CD274 rs2890658 CC genotypes may serve as predisposition factors for NPC.
  • These genetic variations could inform future research on NPC pathogenesis.
  • CTLA-4, PDCD1, and CD274 warrant further investigation as potential personalized therapeutic targets in NPC.
Keywords:
Checkpoint moleculesGene susceptibilityNasopharyngeal carcinomaPersonalized immunotherapy

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