International Journal of Clinical Case Reports 2024, Vol.14, No.2, 87-93 http://medscipublisher.com/index.php/ijccr 90 The impact of these genetic variations is also reflected in the pharmacokinetics and pharmacodynamics of drugs, namely the changes in the absorption, distribution, metabolism, and excretion processes of drugs in the body, as well as the effects of drugs on targets. 2.2 The role of transporter gene mutations The variation of transporter genes plays a crucial role in drug metabolism and transportation, and has a significant impact on individuals, drug responses, and the effectiveness of drug therapy. Transporters are proteins responsible for regulating the absorption, distribution, and excretion of drugs in the body, and their function and expression levels are regulated by genetic variations. These genetic variations involve multiple transporters, including the ABC family, SLC family, etc. This mutation may lead to changes in the structure and function of transporters, affecting the drug transport process and causing varying degrees of drug concentration changes in the body, thereby affecting individual responses to drugs. The variation of ABCB1 (P-gp) gene is a research focus in the ABC family. P-gp (P-glycoprotein) is a transporter protein located on the cell membrane, involved in the drug export process. The polymorphism of ABCB1 gene may lead to changes in the expression level and activity of P-gp, thereby affecting the transport and clearance speed of multiple drugs in vivo. This has significant clinical significance in drug metabolism and resistance, especially for the use of various anti-cancer drugs in cancer treatment. In addition, genetic variations in the SLCfamily also play an important role in drug metabolism and transport. The SLC family includes various transporters related to drug absorption and distribution, such as OATP, OCT, and MATE. Variiation in these genes may lead to the alteration of drug absorption and distribution in the body, which in turn affects the drug pharmacokinetics (Li et al., 2022). 2.3 Comprehensive analysis of genetic variation and drug effects The relationship between genetic variation and drug effects is one of the core issues in the fields of personalized medicine and precision drug therapy. Genetic variation, as an important manifestation of individual genetic information, has a profound impact on drug metabolism, drug target binding, drug absorption, distribution, and excretion. The variation of CYPfamily genes is a significant example. The enzymes encoded by the CYPgene play a crucial role in drug metabolism pathways, and genetic variations may lead to a decrease or increase in the activity of drug metabolism enzymes, thereby affecting the speed of drug clearance in the body. This mutation causes significant differences in individual metabolism and response to drugs, for example, mutations in genes such as CYP2D6, CYP2C9, and CYP2C19 are closely related to the efficacy and adverse reactions of antidepressants, anticoagulants, and other drugs. The variation of transporter genes also plays a crucial role in regulating the absorption and distribution of drugs in the body. For example, mutations in the ABCfamily genes, especially the ABCB1 gene, are closely related to the pharmacokinetics and pharmacodynamics of multiple drugs. This mutation may lead to changes in the drug's transport process in the body, thereby affecting the efficacy and safety of the drug. In addition, genetic variations in the SLC family are also related to drug absorption and distribution, for example, variations in the OATP1B1 gene are associated with the metabolism and tolerance of statins. Genetic variation has multiple impacts on an individual's sensitivity and response to drugs. In some cases, genetic mutations may lead to a decrease in the clearance rate of drugs in the body, increasing drug exposure and potentially increasing the risk of adverse reactions. In other cases, genetic mutations may lead to rapid drug metabolism, weakening the efficacy of the drug. 3 Clinical Significance and Personalized Therapy 3.1 Genetic markers of individual response to specific drugs The genetic markers of individual responses to specific drugs are key elements of personalized medicine, revealing the close relationship between genes and drug metabolism, pharmacology, and adverse drug reactions.
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