PD-1 ((rs2227981) 和PD-L1 ((rs2890658) 多态性和尿细胞癌之间的关系

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Updated: Jul 9, 2025

Multiplexed Immunofluorescence Analysis and Quantification of Intratumoral PD-1+ Tim-3+ CD8+ T Cells

Multiplexed Immunofluorescence Analysis and Quantification of Intratumoral PD-1+ Tim-3+ CD8+ T Cells

Published on: February 8, 2018

Sa Tin Myo Hlaing¹, Putri Damayanti¹, Khine Zin Aung¹

¹Department of Public Health, Faculty of Medicine, University of Miyazaki, Miyazaki, JPN.

|December 4, 2023

概括

编程细胞死亡1 (PD-1) 和其连接体PD-L1的遗传变异与日本人群中的尿路细胞癌风险有关. 特定的PD-1 (rs2227981) 和PD-L1 (rs2890658) 基因型可能会增加对这种癌症的易感性.

科学领域:

免疫遗传学免疫遗传学
癌症生物学癌症生物学
在瘤学瘤学.

背景情况:

尿路细胞癌是一种流行且具有攻击性的癌症,具有已知的危险因素,包括衰老,吸烟和遗传因素.
编程细胞死亡1 (PD-1) 作为T细胞的负调节剂,与PD-L1 (PD-1的配体) 相互作用,抑制T细胞的反应.
在PD-1和PD-L1中的多态性可以影响T细胞反应和抗瘤免疫力,可能会影响癌症的发展.

研究的目的:

调查PD-1 (rs2227981) 和PD-L1 (rs2890658) 基因多态化与尿路细胞癌的风险之间的关联.
评估这些特定多态性在日本人口中尿路细胞癌的致癌性作用.

主要方法:

一项涉及256名尿路细胞癌患者和211名来自日本的健康对照者的病例控制研究.
从外围白细胞中提取DNA.
使用聚合酶链反应-限制片段长度多态 (PCR-RFLP) 的PD-1 (rs2227981) 和PD-L1 (rs2890658) 多态的基因定型.

主要成果:

鉴定出PD-1 rs2227981的C/T基因型是尿道癌的显著风险因素 (调整后OR为1.55,95%CI为1.02-2.35).
结合PD-1 rs2227981的C/T和T/T基因型也表明存在显著风险 (OR 1.46,95% CI: 1.01-2.12).
在男性中,PD-L1的A/A基因型和PD-1的C/T基因型一起呈现出明显更高的风险 (调整后OR为1.83,95%CI为1.05-3.21).

结论:

在尿路细胞癌病例中,PD-1的C/T基因型 (rs2227981) 和A/A (PD-L1) 和C/T (PD-1) 组合基因型占主导地位.
这些特定的基因型可能会增加对尿路细胞癌的易感性.
鉴于观察到的差异,需要进行进一步的研究,以充分阐明PD-1和PD-L1多态度与人类癌症发展之间的复杂关系.

关键词:

日本人口日本人口.在PD-1中,PD-1是在pd-l1 多形态主义的多态主义.尿路细胞癌是什么意思

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Single Nucleotide Polymorphisms-SNPs

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...