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在PD-1和LAG-3基因中的多态性与急性髓性白血病的关联

Lamjed Mansour¹, Mashael Alqahtani¹, Ali Aljuaimlani¹

¹Department of Zoology, College of Science, King Saud University, Building 05, Riyadh 11451, Saudi Arabia.

Medicina (Kaunas, Lithuania)

|May 25, 2024

概括

编程细胞死亡蛋白1 (PDCD1) 基因,特别是rs2227981的遗传变异与患急性髓性白血病 (AML) 的风险更高有关. 对于淋巴细胞激活基因-3 (LAG3) 基因,没有发现这种关联.

科学领域:

血液学血液学血液学
免疫遗传学免疫遗传学
癌症基因组学癌症基因组学

背景情况:

急性骨髓性白血病 (AML) 是一种由骨髓性细胞增殖驱动的严重的血液性恶性瘤.
免疫检查点,包括编程细胞死亡蛋白1 (PD-1) 和淋巴细胞激活基因-3 (LAG-3),调节抗瘤免疫力.
免疫检查点基因的遗传变异可能会影响AML易感性.

研究的目的:

调查PDCD1 (rs2227981) 和LAG3 (rs12313899) 中的单核酸多态 (SNPs) 与沙特人口中的AML风险之间的关联.
评估这些遗传变异对AML发展的影响.

主要方法:

98名沙特AML患者和131名健康对照人群的基因定型,检测PDCD1rs2227981和LAG3rs12313899多态性.
使用TaqMan基因型测定试验进行SNP分析.
采用后勤回归分析来评估SNP与AML风险之间的关系,跨越各种遗传模型.

主要成果:

在PDCD1rs2227981多态性和AML风险增加之间发现了显著的关联 (OR = 1.93,p = 0.00080).
PDCD1 rs2227981的G等位基因和GG/AG基因型在AML患者中显示出明显更高的频率,表明存在相当大的风险.
在这个队列中,没有观察到LAG3 rs12313899多态和AML风险之间的显著相关性.
在分析表明PDCD1表达水平可能会影响AML患者的存活率.

结论:

在沙特人口中,PDCD1 rs2227981多态性与患急性髓性白血病的风险增加有关.
这种遗传标志物可能在这个人口群体中成为AML的风险因素.
需要进一步的研究来探索PDCD1变异在AML病变发生过程中的功能影响.

关键词:

现场行动组-3 在PDCD-1中使用.在SNP的多态化中.急性骨髓性白血病 (AML) 是一种急性骨髓性白血病.免疫检查点分子免疫检查点分子中东地区的中东地区.

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