The diversity and clinical implications of genetic variants influencing clopidogrel bioactivation and response in the Emirati population

Human Genomics(2024)

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摘要
Clopidogrel is a widely prescribed prodrug that requires activation via specific pharmacogenes to exert its anti-platelet function. Genetic variations in the genes encoding its transporter, metabolizing enzymes, and target receptor lead to variability in its activation and platelet inhibition and, consequently, its efficacy. This variability increases the risk of secondary cardiovascular events, and therefore, some variations have been utilized as genetic biomarkers when prescribing clopidogrel. Our study examined clopidogrel-related genes (CYP2C19, ABCB1, PON1, and P2Y12R) in a cohort of 298 healthy Emiratis individuals. The study used whole exome sequencing (WES) data to comprehensively analyze pertinent variations of these genes, including their minor allele frequencies, haplotype distribution, and their resulting phenotypes. Our data shows that approximately 37
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关键词
Clopidogrel,Genetic variants,Pharmacogenomics,CYP2C19,ABCB1,PON1,P2Y12R,Emirati population
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