Abstract
Single-nucleotide polymorphisms (SNPs) is associated with efficacy of specific drugs. Although there are several methods for SNP genotyping in clinical settings, alternative methods with lower cost, higher throughout and less complexity are still needed. In this study, we modified Kompetitive Allele Specific PCR to enable multiplex SNP genotyping by introducing additional fluorescent cassettes that specifically help to differentiate more amplification signals in a single reaction. This new format of assay achieved a limit of detection down to 310 copies/ reactions for simultaneous detection of 2 SNPs with only standard end-point PCR workflow for synthetic controls, and genotyped 117 clinical samples with results that were in 100% agreement with hospital reports. This study presented a simplified, cost-effective high-throughput SNP genotyping alternative for pharmacogenetic variants, and enabled easier access to pharmaceutical guidance when needed.
Highlights
Single-nucleotide polymorphisms (SNPs) is associated with efficacy of specific drugs
glucose-6-phosphate dehydrogenase (G6PD) deficiency prevalence is found to be high in malaria-endemic regions, while dominant antimalarial drugs can cause hemolysis to various degrees in G6PD deficient patients
In Beijing Anzhen Hospital, we provided 22,593 patients with genotype test and pharmaceutical guidance report service in 2018
Summary
Single-nucleotide polymorphisms (SNPs) is associated with efficacy of specific drugs. Polymorphisms of the CYP2C9 (cytochrome P450, family 2, subfamily C, polypeptide 9) gene (CYP2C9 2, CYP2C9 3) and the VKORC1 (vitamin K epoxide reductase complex, subunit 1) gene (−1639G>A) can pose major impact on the maintenance dose of certain drugs such as Warfarin. Genotyping target SNPs for patients provides a time-saving method to guide proper maintenance dose, while reducing the adverse reaction risks and reoccurrence of thromboembolic episodes. G6PD deficiency prevalence is found to be high in malaria-endemic regions, while dominant antimalarial drugs can cause hemolysis to various degrees in G6PD deficient patients. Screening of G6PD deficiency alleles in high-risk populations would provide valuable estimation of hemolysis risk when using drugs such as primaquine, thereby improving public drug safety.[2]
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