临床药物遗传学实施联盟 (CPIC) 基于TPMT和NUDT15基因型的蒂奥普林剂量指南:2025年更新
Maud Maillard1,2, Matthias Schwab3,4, Michelle Whirl-Carrillo5
1Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.
Clinical pharmacology and therapeutics
|January 31, 2026
概括
对氨酸甲基转移酶 (TPMT) 和努迪克斯酶15 (NUDT15) 变体的基因测试可以指导氨酸药物剂量. 这有助于预防在接受默卡普图,提奥瓜或阿扎西奥普林的患者中发生骨髓抑制等严重副作用.
科学领域:
- 药物基因组学 药物基因组学
- 临床药理学 临床药理学
- 遗传学 是一个遗传学.
背景情况:
- 提奥普林药物 (默卡普普林,提奥瓜宁,阿扎西奥普林) 是各种疾病的必要治疗方法.
- 氨酸S-甲基转移酶 (TPMT) 和努迪克斯酶15 (NUDT15) 酶对于代谢氨酸至关重要.
- TPMT和NUDT15基因的遗传变异导致酶活性降低,增加严重药物不良反应的风险,特别是骨髓抑制.
研究的目的:
- 根据药物遗传学测试,提供更新的临床实践指南,对基于药物遗传学测试的提奥普林药物剂量进行建议.
- 在TPMT和NUDT15基因中结合基因变异,以实现个性化剂量策略.
- 为调整默卡普托普林,提奥瓜宁和阿扎西奥普林的起始剂量提供指导.
主要方法:
- 对TPMT和NUDT15遗传变异的现有文献和临床数据的审查和综合.
- 开发可整合TPMT和NUDT15基因型信息的剂量算法.
- 基于基因型导向的氨酸治疗证据的指导方针制定.
主要成果:
- 具有TPMT和/或NUDT15等位基因功能下降或无功能的个体需要调整硫氨酸的起始剂量.
- 在所有种群中都发现了TPMT和NUDT15的遗传变异,基于祖先的不同频率.
- 建议涵盖一种或两种基因变异的情景,包括复合异构菌.
结论:
- 基于TPMT和NUDT15状态的基因型导向的蒂奥普林剂量对优化安全性和有效性至关重要.
- 使用药物遗传学的个性化医疗方法可以减轻严重的不良事件,如骨髓抑制.
- 这些更新的指导方针旨在通过根据个体遗传特征量身定制氨酸治疗来改善患者的治疗结果.
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