Raymond Johanna, Imbert Laurent, Cousin Thibault, Duflot Thomas, Varin Rémi, Wils Julien, Lamoureux Fabien
Pharmacy Department, Rouen University Hospital, 76031 Rouen, France.
Laboratory of Pharmacology, Toxicology and Pharmacogenetic, Pharmacology Department, Rouen University Hospital, 76031 Rouen, France.
J Pers Med. 2021 Jan 11;11(1):37. doi: 10.3390/jpm11010037.
Dabigatran, rivaroxaban, apixaban, edoxaban, and betrixaban are direct oral anticoagulants (DOACs). Their inter-individual variability in pharmacodynamics and pharmacokinetics (transport and metabolism) is high, and could result from genetic polymorphisms. As recommended by the French Network of Pharmacogenetics (RNPGx), the management of some treatments in cardiovascular diseases (as antiplatelet agents, oral vitamin K antagonists, and statins) can rely on genetic testing in order to improve healthcare by reducing therapeutic resistance or toxicity. This paper is a review of association studies between single nucleotide polymorphisms (SNPs) and systemic exposure variation of DOACs. Most of the results presented here have a lot to do with some SNPs of CES1 (rs2244613, rs8192935, and rs71647871) and ABCB1 (rs1128503, rs2032582, rs1045642, and rs4148738) genes, and dabigatran, rivaroxaban, and apixaban. Regarding edoxaban and betrixaban, as well as SNPs in the and genes, literature is scarce, and further studies are needed.
达比加群、利伐沙班、阿哌沙班、依度沙班和贝曲沙班均为直接口服抗凝剂(DOACs)。它们在药效学和药代动力学(转运与代谢)方面的个体间变异性较高,可能源于基因多态性。正如法国药物遗传学网络(RNPGx)所建议的,心血管疾病某些治疗(如抗血小板药物、口服维生素K拮抗剂和他汀类药物)的管理可依赖基因检测,以通过降低治疗抵抗或毒性来改善医疗保健。本文是一篇关于单核苷酸多态性(SNP)与DOACs全身暴露变异之间关联研究的综述。此处呈现的大多数结果与CES1(rs2244613、rs8192935和rs71647871)和ABCB1(rs1128503、rs2032582、rs1045642和rs4148738)基因的某些SNP以及达比加群、利伐沙班和阿哌沙班密切相关。关于依度沙班和贝曲沙班以及其他基因中的SNP,相关文献较少,需要进一步研究。