Mushiroda Taisei
Laboratory for Pharmacogenomics, RIKEN Center for Integrative Medical Sciences, Yokohama, 230-0045, Japan.
J Hum Genet. 2023 Mar;68(3):227-230. doi: 10.1038/s10038-022-01040-1. Epub 2022 May 9.
Pharmacogenomics (PGx) is a research area aimed at identifying genetic factors that are associated with drug responses, including drug efficacy, adverse drug reactions, and the appropriate drug dosage on a case-to-case basis. To promote the clinical implementation of PGx testing, which is currently of limited use in clinical practice, recent research has focused on providing reliable evidence for its clinical utility. In neurology, psychiatry, and neurosurgery, several human leukocyte antigen (HLA) alleles have been reportedly associated with cutaneous adverse drug reactions (cADRs) induced by antiepileptic drugs, which significantly carry the risk of developing cADRs. Prior to using antiepileptic drugs such as carbamazepine and lamotrigine, which are prone to cause severe cADRs, preemptive HLA genetic testing and therapeutic interventions such as drug selection and dosage adjustment based on the results of the tests can reduce the incidence of cADRs in the population before the initiation of treatment.
药物基因组学（PGx）是一个研究领域，旨在识别与药物反应相关的遗传因素，包括药物疗效、药物不良反应以及根据具体情况确定合适的药物剂量。为了促进PGx检测在临床实践中的应用（目前PGx检测在临床实践中的应用有限），近期的研究集中于为其临床效用提供可靠证据。在神经病学、精神病学和神经外科领域，据报道，几种人类白细胞抗原（HLA）等位基因与抗癫痫药物引起的皮肤药物不良反应（cADR）相关，而这些抗癫痫药物显著存在发生cADR的风险。在使用易引发严重cADR的抗癫痫药物（如卡马西平和拉莫三嗪）之前，进行HLA基因预检测，并根据检测结果进行药物选择和剂量调整等治疗干预措施，可以在治疗开始前降低人群中cADR的发生率。
