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关联TRDMT1基因多态与神经母细胞瘤易感性:从病例对照研究的见解

Mengzhen Zhang¹, Wenli Zhang¹, Chunlei Zhou²

¹Department of Pediatric Surgery, Guangzhou Institute of Pediatrics, Guangdong Provincial Key Laboratory of Research in Structural Birth Defect Disease, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, Guangdong, China.

Journal of cellular and molecular medicine

|September 23, 2025

概括

在tRNA二甲基转移酶1 (TRDMT1) 的遗传变异影响神经母细胞瘤的风险. 特定的TRDMT1多态性与基因表达的改变有关,影响患有这种常见儿童癌症的儿童的易感性和预后.

科学领域:

遗传学遗传学是一个
在瘤学瘤学.
表观遗传学在表观遗传学中,表观遗传学是指表观遗传学.

背景情况:

神经母细胞瘤是最常见的儿科脑外固体瘤,遗传因素有助于其发展.
在tRNA二甲基转移酶1 (TRDMT1) 的作用,在RNA甲基化中的关键酶,在神经母细胞瘤易感性之前未被探索.

研究的目的:

在中国人群中调查TRDMT1基因多态和神经母细胞瘤易感性之间的关联.
探索这些多形态对TRDMT1表达的影响及其与临床特征和预后的相关性.

主要方法:

一项涉及402名神经母细胞瘤患者和473名对照者的病例控制研究.
使用TaqMan测定方法进行TRDMT1多态的基因定型 (rs7074891,rs10904887,rs2273734).
统计分析包括后勤回归,分层,表达量化特征位置 (eQTL),临床相关性和生存分析.

主要成果:

rs7074891TC/CC基因型与神经母细胞瘤风险降低有关,特别是在较小的儿童和中瘤患者中.
相反,rs10904887 CC和rs2273734 TT基因型与神经母细胞瘤风险增加有关,在男性和老年儿童等亚组中具有特定影响.
TRDMT1多态性影响了TRDMT1的表达,更高的表达与更差的预后和高风险的临床特征相关.

结论:

TRDMT1多态性与神经母细胞瘤的易感性和风险有显著的关联.
这些发现提供了关于神经母细胞瘤背后遗传和表观遗传机制的见解.
TRDMT1多态可能作为神经母细胞瘤风险分层和治疗点的潜在生物标志物.

关键词:

TRDMT1 的意思 m5C 修改的修改神经母细胞瘤的神经母细胞瘤多形态主义的多态主义.易感性易感性易感性

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