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Background <p>Oral Cancer (OC) is a major public health concern in Pakistan, ranking as the leading cause of cancer-related mortality in males and a significant contributor in females. Genetic variations, predominantly single nucleotide polymorphisms (SNPs) in immune checkpoint genes, are implicated in OC susceptibility. However, their role remains unclear. This study investigates <i>PD-1</i> gene polymorphisms and their association with OC risk in the Pakistani population.</p> Methodology <p>A case-control study was conducted from 2019 to 2022, recruiting 215&#xa0;OC cases and 411 healthy controls for genetic analysis. High-Resolution Melting (HRM) analysis and Sanger sequencing were used for genotyping rs36084323 and rs2227981, while ELISA was performed to evaluate PD-1 protein expression levels.</p> Results <p>Genotypic analysis revealed a significant association between rs36084323 and OC susceptibility (<i>p</i> = 0.02; OR = 1.99; 95% CI = 1.09–3.61), particularly in individuals carrying the CC and CT genotypes. However, rs2227981 showed no significant association. Haplotype analysis indicated that the CG haplotype (<i>p</i> = 0.004; OR = 1.68; 95% CI = 1.18–2.39) was significantly associated with higher OC risk, while the AG haplotype (<i>p</i> = 0.02; OR = 0.52; 95% CI = 0.29–0.94) was linked to a protective effect. PD-1 protein expression levels did not differ between cases and controls.</p> Conclusion <p>The <i>PD-1</i> rs36084323 polymorphism may serve as a genetic biomarker for OC susceptibility in Pakistan, emphasizing the need for targeted genetic screening and early detection strategies. Further research could uncover novel biomarkers and therapeutic targets for OC in the Pakistani population.</p>

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Association of PD-1 immune checkpoint polymorphisms with oral cancer risk: results from a Pakistani case-control study

  • 期刊论文

  • 发表日期：

    2025年9月17日

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  • Iqra Mubeen,
  • Arifa Shabbir,
  • Ezzat M. Awad,
  • Humaira Naeemi,
  • Talin Barisani-Asenbauer,
  • Muhammad Usman Rashid,
  • Naila Malkani

摘要

Background

Oral Cancer (OC) is a major public health concern in Pakistan, ranking as the leading cause of cancer-related mortality in males and a significant contributor in females. Genetic variations, predominantly single nucleotide polymorphisms (SNPs) in immune checkpoint genes, are implicated in OC susceptibility. However, their role remains unclear. This study investigates PD-1 gene polymorphisms and their association with OC risk in the Pakistani population.

Methodology

A case-control study was conducted from 2019 to 2022, recruiting 215 OC cases and 411 healthy controls for genetic analysis. High-Resolution Melting (HRM) analysis and Sanger sequencing were used for genotyping rs36084323 and rs2227981, while ELISA was performed to evaluate PD-1 protein expression levels.

Results

Genotypic analysis revealed a significant association between rs36084323 and OC susceptibility (p = 0.02; OR = 1.99; 95% CI = 1.09–3.61), particularly in individuals carrying the CC and CT genotypes. However, rs2227981 showed no significant association. Haplotype analysis indicated that the CG haplotype (p = 0.004; OR = 1.68; 95% CI = 1.18–2.39) was significantly associated with higher OC risk, while the AG haplotype (p = 0.02; OR = 0.52; 95% CI = 0.29–0.94) was linked to a protective effect. PD-1 protein expression levels did not differ between cases and controls.

Conclusion

The PD-1 rs36084323 polymorphism may serve as a genetic biomarker for OC susceptibility in Pakistan, emphasizing the need for targeted genetic screening and early detection strategies. Further research could uncover novel biomarkers and therapeutic targets for OC in the Pakistani population.