The genetic underpinnings of anthracycline-induced cardiomyopathy predisposition.
The genetic underpinnings of anthracycline-induced cardiomyopathy predisposition.
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蒽环类药物是一种化疗药物，有助于显著改善癌症生存率，但也有急性和慢性心脏毒性的风险。这已导致接受这些药物治疗的癌症幸存者的心脏病发病率和死亡率风险显著升高。某些治疗相关、人口统计学和医学因素会增加个体蒽环类药物诱导心脏毒性的风险;然而，受影响者之间的显著差异表明，蒽环类药物诱导心脏毒性存在潜在的遗传易感性。目前的叙述性综述旨在总结迄今为止已确定与蒽环类药物诱导的心脏毒性相关的遗传变异的文献。这些包括在编码与蒽环类药物转运和代谢相关的蛋白质的基因中发现的变异，编码与活性氧产生相关的蛋白质的基因，以及已知与心脏病相关的基因。虽然有强有力的证据表明，蒽环类药物诱导的心脏毒性的易感性具有遗传基础，但迄今为止的大部分工作都是候选基因分析。未来的工作应侧重于全基因组分析，包括全基因组关联和基于测序的研究，以确认和扩大这些发现。
Anthracyclines, chemotherapeutic agents that have contributed to significant improvements in cancer survival, also carry risk of both acute and chronic cardiotoxicity. This has led to significantly elevated risks of cardiac morbidity and mortality among cancer survivors treated with these agents. Certain treatment related, demographic, and medical factors increase an individual’s risk of anthracycline induced cardiotoxicity; however, significant variability among those affected suggests that there is an underlying genetic predisposition to anthracycline induced cardiotoxicity. The current narrative review seeks to summarize the literature to date that has identified genetic variants associated with anthracycline induced cardiotoxicity. These include variants found in genes that encode proteins associated with anthracycline transportation and metabolism, those that encode proteins associated with the generation of reactive oxygen species, and those known to be associated with cardiac disease. While there is strong evidence that susceptibility to anthracycline induced cardiotoxicity has genetic underpinnings, the majority of work to date has been candidate gene analyses. Future work should focus on genome-wide analyses including genome-wide association and sequencing-based studies to confirm and expand these findings.
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DOI：
10.1007/112_2020_30
发表时间：
2022
期刊：
Reviews of physiology, biochemistry and pharmacology
影响因子：
--
作者：
Anderson JT;Huang KM;Lustberg MB;Sparreboom A;Hu S
通讯作者：
Hu S
影响因子：
4.6
作者：
Christidi, Effimia;Huang, Haojun;Brunham, Liam R.
通讯作者：
Brunham, Liam R.
影响因子：
3.5
作者：
Cascales, Almudena;Sanchez-Vega, Beatriz;Ayala de la Pena, Francisco
通讯作者：
Ayala de la Pena, Francisco
影响因子：
5.8
作者：
Cascales, Almudena;Pastor-Quirante, Francisco;Ayala de la Pena, Francisco
通讯作者：
Ayala de la Pena, Francisco
影响因子：
10.3
作者：
Chen, Yan;Chow, Eric J.;Yasui, Yutaka
通讯作者：
Yasui, Yutaka