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单个非编码SNP在FPGS调节叶酸药物疗效在急性淋巴细胞白血病:数据驱动的探索和实验验证验证

Wenliang Yu^1,2, Chenyang Li¹, Yuning Meng¹

¹The State Key Laboratory of Pharmaceutical Biotechnology and Department of Neurology of Nanjing Drum Tower Hospital, School of Life Sciences and The Affiliated Hospital of Nanjing University Medical School, Nanjing University, Nanjing, 210023, China.

Molecular biomedicine

|November 21, 2025

概括

一种特定的基因变异,FPGS中的rs1544105,显著影响甲状腺素 (MTX) 在急性淋巴细胞白血病 (ALL) 治疗中的疗效. 这一发现为个性化维护疗法策略提供了潜力.

科学领域:

药物基因组学药物基因组学
在瘤学瘤学.
分子生物学分子生物学

背景情况:

甲托雷克萨特 (MTX) 是急性淋巴细胞白血病 (ALL) 的基石化疗.
影响MTX疗效的遗传变异对于优化患者的治疗结果至关重要.
关于影响MTX反应的非编码变异的研究有限.

研究的目的:

为了确定MTX在ALL疗效的遗传决定因素.
研究非编码SNP rs1544105在FPGS基因中的作用.
阐明 rs1544105 对MTX反应的影响背后的分子机制.

主要方法:

综合生物信息学分析和元分析.
主编辑生成突变细胞系.
基于细胞和动物的实验.
双露西法酶记者和电泳性移动性转移测定.

主要成果:

rs1544105 A基因组与增加疾病进展风险和更高的MTX血度有关.
rs1544105 A>G 增强FPGS表达和细胞内MTX保留.
这种SNP在细胞和动物模型中显著改善MTX的疗效.
rs1544105 A>G通过增强的CREB1结合来增加FPGS转录.

结论:

在FPGS中非编码的SNP rs1544105在ALL中调节MTX治疗反应中发挥着关键作用.
这项研究为开发基于MTX的个性化维持疗法提供了基础.
了解SNP驱动的基因调节为优化癌症治疗提供了新的途径.

关键词:

急性淋巴细胞白血病 (Acute Lymphoblastic Leukemia) 是一种急性淋巴细胞白血病.聚聚-γ-谷氨酸合成酶的组合.遗传变体的遗传变体甲基甲酸二醇的使用方法没有编码的SNP.

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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,...