Bishop Jeffrey R
Department of Experimental and Clinical Pharmacology, University of Minnesota, Minneapolis, MN, United States.
Handb Clin Neurol. 2018;147:59-73. doi: 10.1016/B978-0-444-63233-3.00006-3.
Pharmacogenetics is the study of how genetics influences drug treatment outcomes. Much research has been conducted to identify and characterize gene variants that impact the pharmacokinetic and pharmacodynamic aspects of medications used to treat neurologic and psychiatric disorders. This chapter reviews the current state of pharmacogenetic aspects of these treatments. Medications with supporting pharmacogenetic information in product labeling, clinical guidelines, or important mechanistic implications are discussed. At this time, clinically relevant genetic variation in drug metabolizing enzymes may inform drug dosing for a number of medications metabolized in the liver. Additionally, genetic variation in immunological genes may be tested to assess risk for severe hypersensitivity reactions to some anticonvulsant drugs. Finally, a growing body of research highlights that genetic polymorphisms in drug targets may influence symptom response or tolerability to some treatments.
药物遗传学是研究遗传学如何影响药物治疗效果的学科。已经开展了大量研究来识别和表征影响用于治疗神经和精神疾病药物的药代动力学和药效学方面的基因变异。本章回顾了这些治疗方法在药物遗传学方面的现状。讨论了在产品标签、临床指南或具有重要机制意义方面有支持性药物遗传学信息的药物。目前，药物代谢酶中的临床相关基因变异可能为许多在肝脏中代谢的药物的给药提供依据。此外，可以检测免疫基因的变异以评估对某些抗惊厥药物发生严重过敏反应的风险。最后，越来越多的研究表明，药物靶点中的基因多态性可能会影响对某些治疗的症状反应或耐受性。
