关键词: Carbamazepine Epilepsy Pharmacogenetic Polymorphism

Mesh : ATP Binding Cassette Transporter, Subfamily B / genetics ATP-Binding Cassette Transporters / therapeutic use Anticonvulsants / therapeutic use Carbamazepine / therapeutic use Epilepsies, Partial / drug therapy genetics Epilepsy / drug therapy genetics GTPase-Activating Proteins Humans Multidrug Resistance-Associated Protein 2 / genetics

来  源:   DOI:10.1007/s13760-022-01920-5

Abstract:
Despite a dramatic increase in treatment options over the past 30 years, Carbamazepine (CBZ) is still considered the standard of care and the most prescribed initial treatment for focal epilepsy. Hence, the identification of genetic biomarkers that influence the response, resistance and toxicity to CBZ remains a challenge. Several research studies have looked into this to highlight the polymorphisms responsible for the variability in the response to CBZ in patients with epilepsy. The aim of this review is to compare the different results published in the literature The systematic review included thirty-nine studies (2005-2021), Meta-analyses were performed on more than twelve polymorphisms in three genes (ABCB1, ABCC2, RALBP1) involved in CBZ cell transport. The current challenges are to identify other new biomarkers of antiepileptic drugs that can only materialize with large-scale collaborative research efforts.
摘要:
尽管在过去的30年中治疗方案急剧增加,卡马西平(CBZ)仍然被认为是治疗局灶性癫痫的标准和最处方的初始治疗方法。因此,识别影响反应的遗传生物标志物,对CBZ的耐药性和毒性仍然是一个挑战。一些研究研究对此进行了调查,以强调癫痫患者对CBZ反应的变异性的多态性。这篇综述的目的是比较文献中发表的不同结果。系统综述包括39项研究(2005-2021),对涉及CBZ细胞转运的三个基因(ABCB1,ABCC2,RALBP1)中超过12个多态性进行了荟萃分析。目前的挑战是确定抗癫痫药物的其他新生物标志物,这些生物标志物只能通过大规模的合作研究努力来实现。
公众号