Quiñones Luis, Roco Ángela, Cayún Juan P, Escalante Paula, Miranda Carla, Varela Nelson, Meneses Francisca, Gallegos Bastián, Zaruma-Torres Fausto, Lares-Asseff Ismael
Laboratorio de Carcinogénesis Química y Farmacogenética, Departamento de Oncología Básico Clínica, Facultad de Medicina, Universidad de Chile, Santiago, Chile,
Escuela Tecnología Médica, Universidad Santo Tomás, Santiago, Chile.
Rev Med Chil. 2017 Apr;145(4):483-500. doi: 10.4067/S0034-98872017000400009.
Pharmacogenomics is an emergent field aimed at tailoring pharmacological therapy. Genetic polymorphisms can modify the expression and function of enzymes and proteins involved in drug metabolism, affecting absorption, distribution, biotransformation and excretion as well as the drug-target interaction. Therefore, the presence of allelic variants will classify people as poor, extensive or rapid/ultra rapid metabolizers, modifying drug efficacy and safety. In this work, the state of art in relation to this discipline is presented and the genetic variants of enzymes that are involved in drug pharmacokinetics or pharmacodynamics are described. The effects of these variants on the therapeutic response to drugs used in our country are also discussed.
药物基因组学是一个旨在定制药物治疗的新兴领域。基因多态性可改变参与药物代谢的酶和蛋白质的表达及功能，影响药物的吸收、分布、生物转化和排泄以及药物与靶点的相互作用。因此，等位基因变体的存在会将人群分类为慢代谢者、普通代谢者或快/超快代谢者，从而改变药物疗效和安全性。在这项工作中，介绍了该学科的最新进展，并描述了参与药物药代动力学或药效学的酶的基因变体。还讨论了这些变体对我国使用的药物治疗反应的影响。
