Division of Child Neurology, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, MLC 2015, Cincinnati, OH 45229, USA.
Biomark Med. 2011 Oct;5(5):635-41. doi: 10.2217/bmm.11.75.
The identification and validation of genetic factors ('biomarkers') that reliably predict the efficacy and toxicity of specific pharmacological agents for individual patients would significantly improve the current treatment of patients with epilepsy. A pharmacogenetic biomarker classification has been proposed that identifies three biomarker types involved in drug response: 'known valid biomarkers', 'probable valid biomarkers' and 'exploratory or research biomarkers'. The only known valid antiepileptic drug biomarker is HLA-B*1502 (Stevens-Johnson syndrome in patients of specific Asian backgrounds taking carbamazepine). Probable valid antiepileptic drug biomarkers include polymorphisms in one drug transporter gene, two drug metabolizing genes, three sodium channel genes and one HLA allele. Current methodological challenges to identifying new antiepileptic medication biomarkers can only be overcome with large-scale collaborative research efforts.
鉴定和验证可靠预测特定药物对个体患者疗效和毒性的遗传因素(“生物标志物”),将极大地改善目前对癫痫患者的治疗。已经提出了一种药物遗传学生物标志物分类,确定了与药物反应相关的三种生物标志物类型:“已知有效生物标志物”、“可能有效生物标志物”和“探索性或研究性生物标志物”。唯一已知的有效抗癫痫药物生物标志物是 HLA-B*1502(在服用卡马西平的特定亚洲背景患者中出现史蒂文斯-约翰逊综合征)。可能有效的抗癫痫药物生物标志物包括一个药物转运体基因、两个药物代谢基因、三个钠离子通道基因和一个 HLA 等位基因的多态性。目前,要确定新的抗癫痫药物生物标志物,只能通过大规模的合作研究来克服方法学上的挑战。