Human CYP2C19 Gene Polymorphism

CYP2C19 is one of the important drug metabolizing enzymes in the CYP450 family. Many endogenous substrates and about 2% of clinical drugs are metabolized by CYP2C19, such as the metabolism of antiplatelet aggregation inhibitors (like clopidogrel), proton pump inhibitors (omeprazole), anticonvulsants, etc. CYP2C19 gene polymorphisms also have differences in the metabolizing ability of related drugs. These point mutations of *2 (rs4244285) and *3 (rs4986893) cause the loss of the enzyme activity encoded by the CYP2C19 gene and the weakness of metabolic substrate ability, and increase the blood concentration, so as to cause adverse drug reactions related to blood concentration. *17 (rs12248560) could increase the enzyme activity encoded by CYP2C19 gene, the production of active metabolites, and enhance the platelet aggregation inhibition and increase the bleeding risk. For people with slow metabolism of drugs, taking normal doses for a long time will cause serious toxic and side effects: mainly liver damage, hematopoietic system damage, central nervous system damage, etc., that can lead to death in severe cases. According to the individual differences in the corresponding drug metabolism, it is generally divided into four phenotypes, namely ultra-fast metabolism (UM,*17/*17,*1/*17), fast metabolism (RM,*1/*1) , intermediate metabolism (IM, *1/*2, *1/*3), slow metabolism (PM, *2/*2, *2/*3, *3/*3).