Zarzuelo Romero María José, Pérez Ramírez Cristina, Carrasco Campos María Isabel, Sánchez Martín Almudena, Calleja Hernández Miguel Ángel, Ramírez Tortosa María Carmen, Jiménez Morales Alberto
Department of Pharmacy and Pharmaceutical Technology, Faculty of Pharmacy, University of Granada, 18071 Granada, Spain.
Pharmacogenetics Unit, Pharmacy Service, Virgen Macarena University Hospital, 41009 Seville, Spain.
J Pers Med. 2021 Apr 23;11(5):335. doi: 10.3390/jpm11050335.
The introduction of new therapies for the treatment of multiple sclerosis (MS) is a very recent phenomenon and little is known of their mechanism of action. Moreover, the response is subject to interindividual variability and may be affected by genetic factors, such as polymorphisms in the genes implicated in the pathologic environment, pharmacodynamics, and metabolism of the disease or in the mechanism of action of the medications, influencing the effectiveness of these therapies. This review evaluates the impact of pharmacogenetics on the response to treatment with new therapies in patients diagnosed with MS. The results suggest that polymorphisms detected in the , , , , and genes, for treatment with natalizumab, , for fingolimod and dimethyl fumarate, , for cladribine, and , for dimethyl fumarate, may be used in the future as predictive markers of treatment response to new therapies in MS patients. However, there are few existing studies and their samples are small, making it difficult to generalize the role of these genes in treatment with new therapies. Studies with larger sample sizes and longer follow-up are therefore needed to confirm the results of these studies.
用于治疗多发性硬化症（MS）的新疗法是最近才出现的，对其作用机制了解甚少。此外，个体反应存在差异，可能受遗传因素影响，如与疾病病理环境、药效学、代谢或药物作用机制相关基因的多态性，这些都会影响这些疗法的有效性。本综述评估了药物遗传学对确诊为MS患者使用新疗法治疗反应的影响。结果表明，在用于那他珠单抗治疗的 、 、 、 及 基因中检测到的多态性，用于芬戈莫德和富马酸二甲酯治疗的 ，用于克拉屈滨治疗的 ，以及用于富马酸二甲酯治疗的 ，未来可能用作MS患者对新疗法治疗反应的预测标志物。然而，现有研究较少且样本量小，难以概括这些基因在新疗法治疗中的作用。因此，需要开展样本量更大、随访时间更长的研究来证实这些研究结果。
