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PD-1免疫检查点多态与口腔癌风险的关联:来自巴基斯坦病例控制研究的结果

Iqra Mubeen¹, Arifa Shabbir¹, Ezzat M Awad²

¹Department of Zoology, GC University, Lahore, Pakistan.

Molecular biology reports

|September 17, 2025

概括

PD-1 rs36084323基因变异与巴基斯坦口腔癌风险增加有关. 这一发现凸显了基因查的潜力,有助于早期发现口腔癌.

科学领域:

遗传学和基因组学遗传学和基因组学
癌症研究癌症研究
免疫学免疫学免疫学

背景情况:

口腔癌 (OC) 在巴基斯坦是一个重大的公共卫生挑战,是癌症死亡的主要原因.
遗传变异,特别是免疫检查点基因中的单核酸多态 (SNP),被怀疑会影响OC易感性.
在巴基斯坦人口中,PD-1基因多态性对OC风险的特定作用需要进一步调查.

研究的目的:

调查巴基斯坦人口中PD-1基因多态 (rs36084323和rs2227981) 与口腔癌风险之间的关联.
评估与口腔癌相关的PD-1蛋白表达水平.
确定巴基斯坦口腔癌易感性的潜在遗传生物标志物.

主要方法:

在2019年至2022年期间,一项涉及215例口腔癌病例和411名健康对照者的病例控制研究进行了.
高分辨率化 (HRM) 分析和桑格测序用于基因定型特定的PD-1SNP.
酶相关免疫吸收试验 (ELISA) 用于测量PD-1蛋白表达水平.

主要成果:

PD-1基因中的rs36084323多态性与增加口腔癌易感性 (p=0.02) 有显著的关联,特别是CC和CT基因型.
哈普洛型分析显示,CG哈普洛型与较高的OC风险有关 (p=0.004),而AG哈普洛型具有保护作用 (p=0.02).
对于rs2227981多态,没有发现显著的关联,PD-1蛋白表达水平在病例和对照之间没有差异.

结论:

在巴基斯坦,PD-1 rs36084323多态可能作为一种有价值的遗传生物标志物,用于识别口腔癌风险较高的人.
这些发现强调了针对性基因查对于早期发现和治疗口腔癌的重要性.
进一步的研究是有必要的,以探索新的生物标志物和治疗策略口腔癌在巴基斯坦的背景下.

关键词:

在PD-1多态化中.高分辨率的融化曲线口腔癌是一种口腔癌.巴基斯坦人口巴基斯坦人口.

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