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药物与化疗中的基因多态性

Genetic Polymorphisms in Pharmaceuticals and Chemotherapy.

作者信息

Gummadi Aneesha Choudary, Guddati Achuta Kumar

机构信息

Medical College of Georgia, Augusta University, Augusta, GA 30909, USA.

Division of Hematology/Oncology, Georgia Cancer Center, Augusta University, Augusta, GA 30912, USA.

出版信息

World J Oncol. 2021 Oct;12(5):149-154. doi: 10.14740/wjon1405. Epub 2021 Oct 5.

Abstract

The study of genetic polymorphisms has significantly advanced the field of personalized medicine. Polymorphism of genes influence the efficacy of drugs used for treating medical conditions such as depression, cardiac diseases, thromboembolic disorders, oncological diseases, etc. The study of genetic polymorphism is beneficial for drug safety as well as for assessing therapeutic outcomes. Understanding and detecting genetic polymorphisms early on in patients can be useful in selecting the correct chemotherapeutic agent and appropriate dosage for a patient. Knowing the genetic profile of a patient and the interindividual response to various drugs significantly influences the proper selection of medication - a key step towards personalized medicine. Polymorphisms also make patients susceptible to certain cancers and identification of these polymorphisms early can be useful for a personalized treatment plan. The Genome-Wide Association Studies (GWAS) project where millions of genetic variants in the genomes of many individuals are studied to identify connections between what is present on the gene and the phenotype of the patient has enhanced the prospect of personalized medicine. GWAS has been used to identify hundreds of diseases associated to genetic polymorphisms. Individual pharmacokinetic profiles of patients to drugs enable the development of early surveillance protocols to prophylactically prevent patients from having adverse reactions. Furthermore, patient-derived cellular organoids are another advancement that allows researchers to screen for polymorphisms of the patient for adverse reactions from chemotherapy and will allow for the development of new medications that are specific to the profile of the patient's tumor. These advances have led to significant progress towards personalized medicine. The functional consequences of genetic polymorphism on cancer drugs and treatment are studied here.

摘要

基因多态性的研究极大地推动了个性化医疗领域的发展。基因多态性会影响用于治疗抑郁症、心脏病、血栓栓塞性疾病、肿瘤疾病等病症的药物疗效。基因多态性的研究对药物安全性以及评估治疗效果都有益处。在患者早期了解和检测基因多态性有助于为患者选择正确的化疗药物和合适的剂量。了解患者的基因概况以及个体对各种药物的反应会显著影响药物的正确选择,这是迈向个性化医疗的关键一步。多态性还会使患者易患某些癌症,早期识别这些多态性有助于制定个性化的治疗方案。全基因组关联研究(GWAS)项目通过研究许多个体基因组中的数百万个基因变异,以确定基因上的特征与患者表型之间的联系,从而提升了个性化医疗的前景。GWAS已被用于识别数百种与基因多态性相关的疾病。患者对药物的个体药代动力学特征有助于制定早期监测方案,以预防性地防止患者出现不良反应。此外,患者来源的细胞类器官是另一项进展,它使研究人员能够筛选患者的多态性,以检测化疗的不良反应,并有助于开发针对患者肿瘤特征的新药物。这些进展已使个性化医疗取得了重大进展。本文研究了基因多态性对癌症药物和治疗的功能影响。

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