在cGAS-STING介导的I型干扰素天生的免疫信号通路中的遗传多态性与DLBCL有关
Qirui Zhou1, Ruinan Jia1, Jinlin Chen1
1Department of Hematology, Qilu Hospital of Shandong University, Cheeloo College of Medicine, Shandong University, Jinan, China.
Frontiers in immunology
|January 1, 2026
概括
干扰素基因 (STING) 循环GMP-AMP合成酶 (cGAS) -刺激器通路的遗传变异影响扩散大B细胞淋巴瘤 (DLBCL) 的风险,治疗反应和生存率. 特定的单核酸多态 (SNP) 显示出作为DLBCL.的预后生物标志物的潜力.
科学领域:
- 免疫学 免疫学 免疫学
- 遗传学 是一个遗传学.
- 在瘤学瘤学.
背景情况:
- 扩散性大B细胞淋巴瘤 (DLBCL) 是一种异质癌症,临床结果可变.
- 循环GMP-AMP合成酶 (cGAS) 刺激干扰素基因 (STING) 途径对先天免疫至关重要,并与DLBCL发育有关.
- 在DLBCL病原发生过程中,cGAS-STING通路内的遗传变异的作用尚不清楚.
研究的目的:
- 研究cGAS-STING通路中的遗传多态化与DLBCL.之间的关联.
- 评估这些遗传变异对DLBCL易感性,临床特征和患者存活率的影响.
主要方法:
- 在cGAS-STING通路的基因中单核酸多态 (SNPs) 的基因定型.
- 在147名DLBCL患者和247名健康对照中分析了SNP和DLBCL敏感性之间的关联.
- 鉴定的SNP与临床特征,化疗反应和整体存活率的相关性.
主要成果:
- 特定的SNP (TREX1 rs11797,CXCL10 rs4508917) 与DLBCL敏感性有关.
- IFNB1 rs1051922与白细胞和单细胞计数相关.
- TREX1 rs11797和IFNB1 rs1051922与化疗反应有关.
- PRMT1 rs975484和CXCL10 rs8878与整体存活率相关;PRMT1 rs975484也与血红蛋白水平相关,并显示出作为有利的预后因素的潜力.
结论:
- 在cGAS-STING介导的I型干扰素通路中的遗传变异与DLBCL易感性,治疗反应和预后有关.
- 这些SNP可以作为有价值的生物标志物,用于DLBCL患者的风险分层和个性化监测.
相关概念视频
Exon Recombination
4.0K
The evolution of new genes is critical for speciation. Exon recombination, also known as exon shuffling or domain shuffling, is an important means of new gene formation. It is observed across vertebrates, invertebrates, and in some plants such as potatoes and sunflowers. During exon recombination, exons from the same or different genes recombine and produce new exon-intron combinations, which might evolve into new genes.
Exon shuffling follows “splice frame rules.” Each exon...
Exon shuffling follows “splice frame rules.” Each exon...
4.0K
The JAK-STAT Signaling Pathway
11.8K
Several cytokine receptors have tightly bound Janus kinase or JAK proteins attached at their cytosolic tail. Small signaling molecules such as cytokines, growth hormones, or prolactins bind to the cytokine receptors and initiate their dimerization. The dimerization brings the cytosolic JAKs together that trans-phosphorylate and activates each other. The activated JAKs now phosphorylate cytosolic tails of the cytokine receptors, which serve as binding sites for adaptor proteins such as SH2...
11.8K
Single Nucleotide Polymorphisms-SNPs
17.8K
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,...
17.8K
Genome-wide Association Studies-GWAS
15.2K
Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
GWAS does not require the identification of the target gene involved in...
15.2K


