Metropolitan Autonomous University, Campus Xochimilco, Calzada del Hueso 1100, Villa Quietud, 04960, Coyoacán, Mexico City, Mexico.
National Institute of Neurology & Neurosurgery, Manuel Velasco Suárez, Insurgentes Sur 3877, La Fama, 14269, Tlalpan, Mexico City, Mexico.
Pharmacogenomics. 2021 Oct;22(15):983-996. doi: 10.2217/pgs-2021-0081. Epub 2021 Oct 6.
We evaluated the potential influence of genetic (, , , , , , , and ) and nongenetic factors on carbamazepine (CBZ) response, adverse drug reactions and CBZ plasma concentrations in 126 Mexican Mestizos (MM) with epilepsy. Patients were genotyped for 27 variants using TaqMan assays. CBZ response was associated with variants and lamotrigine cotreatment. CBZ-induced adverse drug reactions were related to antiepileptic polytherapy and rs2298771/rs3812718 haplotype. CBZ plasma concentrations were influenced by -rs2276707 and -rs3814058, and by phenytoin cotreatment. CBZ daily dose was also influenced by -rs3814055 and -rs1051740. Interindividual variability in CBZ treatment was partly explained by , and variants, as well as antiepileptic cotreatment in MM with epilepsy.
我们评估了遗传（、、、、、、、和）和非遗传因素对卡马西平（CBZ）反应、药物不良反应和 CBZ 血浆浓度的潜在影响，共纳入 126 名患有癫痫的墨西哥梅斯蒂索人（MM）。使用 TaqMan 检测方法对 27 个变异进行了基因分型。CBZ 反应与、和拉莫三嗪联合治疗有关。CBZ 诱导的药物不良反应与抗癫痫药物联合治疗和 rs2298771/rs3812718 单倍型有关。CBZ 血浆浓度受 -rs2276707 和 -rs3814058 以及苯妥英钠联合治疗的影响。CBZ 日剂量也受 -rs3814055 和 -rs1051740 的影响。遗传变异，以及癫痫 MM 中的抗癫痫药物联合治疗，部分解释了 CBZ 治疗的个体间变异性。
