ỨNG DỤNG KĨ THUẬT GIẢI TRÌNH TỰ THẾ HỆ MỚI KHẢO SÁT BIẾN THỂ GEN LIÊN QUAN CHUYỂN HOÁ THUỐC KHÁNG KẾT TẬP TIỂU CẦU Ở BỆNH NHÂN ĐỘNG MẠCH VÀNH

Abstract

Background: Coronary artery disease (CAD) is one of the most common causes of death in the developed world. The treatment strategy of CAD includes lipid-lowering, blood pressure control, and anti-platelet therapies. Notably, antiplatelet drugs like aspirin and clopidogrel play a crucial role in this treatment regimen. Both clopidogrel and aspirin undergo metabolism through the cytochrome P450 family. Therefore, polymorphisms in these genes can affect the metabolic function and therapeutic efficacy of these drugs. Objectives: Next-generation sequencing (NGS) has been used to detect polymorphisms on 12 genes including CYP2D6, CYP3A5, CYP2C19, CYP2C9, CYP1A2, CYP2B6, PON1, CYP3A4, ABCD1, COX1, and COX2. Methods: Blood samples were collected from 63 CAD patients. Genomic DNA was extracted and fragmented to prepare the library for sequencing. BASESPACE software was used for data analysis. Results: From 63 CAD patients, we detected 9 drug response common variants in PON1 (rs662, rs854560), CYP2B6 (rs2279343, rs3745274, rs4803419), CYP2C19 (rs4244285, rs4986893), CYP2D6 (rs1135840) and CYP2C9 gene (rs1057910). Conclusion: We successfully developed a NGS protocol to detect genetic variants associated with the clopidogrel and aspirin metabolism in patients with CAD.