急性脑梗死患者CYP2C19、MTHFR、SLCO1B1和APOE基因检测结果分析

Gene polymorphisms of CYP2C19,MTHFR,SLCO1B1 and APOE in acute cerebral infarction patients

目的探讨急性脑梗死患者CYP2C19、MTHFR、SLCO1B1和APOE基因多态性分布,为个体化药物治疗提供理论依据。方法选取2020-2022年该院收治的急性脑梗死患者400例作为研究对象,采用PCR-荧光探针方法对急性脑梗死患者CYP2C19、MTHFR、SLCO1B1和APOE基因多态性进行检测,分析基因多态性分布的情况。结果在急性脑梗死患者中,CYP2C19基因表型中EM型占比为44.25%,PM型占比为9.75%;MTHFR基因C677T位点突变型(CT型+TT型)占比为78.50%,CC型占比为21.50%;SLCO1B1基因型中的78.75%为Ⅰ类野生表型,1.50%为Ⅲ类纯合突变型;APOE基因表型中E2型和E3型占比为84.25%,E4型占比为15.75%。结论对400例急性脑梗死患者CYP2C19、MTHFR、SLCO1B1和APOE基因多态性的分布进行了分析,对指导急性脑梗死患者人群个体化用药提供数据支持,对实现安全用药具有重要意义。

Objective To explore the distribution of CYP2C19,MTHFR,SLCO1B1,and APOE gene polymorphisms in patients with acute cerebral infarction,so as to provide theoretical basis for individualized drug treatment.Methods A total of 400 patients with acute cerebral infarction admitted to the hospital from 2020 to 2022 were selected as the research subjects,and the polymorphisms of CYP2C19,MTHFR,SLCO1B1 and APOE genes were tested by PCR fluorescene probe method,and the polymorphism distribution of those genes was analyzed.Results In patients with acute cerebral infarction,44.25%of CYP2C19 gene phenotype were EM type,and 9.75%of CYP2C19 gene phenotype were PM type.The proportion of mutations at the C677T locus of the MTHFR gene(CT type+TT type)was 78.50%,CC type accounted for 21.50%.78.75%of the SLCO1B1 genotypes were typeⅠwild type,and 1.50%SLCO1B1 gene phenotypes were typeⅢhomozygous mutant type.The E2 and E3 types accounted for 84.25%of the APOE gene phenotype,while the E4 type accounted for 15.75%.Conclusion The distribution of CYP2C19,MTHFR,SLCO1B1 and APOE gene polymorphisms in 400 acute cerebral infarction patients is analyzed,providing data support for guiding individualized medication in the population of acute cerebral infarction patients and of great significance for achieving safe medication.