关键词: 冠状动脉疾病, 多态现象, 遗传, 血小板聚集抑制剂

Abstract:

Objective To investigate the distribution of CYP2C19 gene polymorphism in patients with coronary heart disease(CHD) in Zhaoqing, Guangdong Province, and to compare the distribution of CYP2C19 gene polymorphism in gender and that in other regions in Guangdong Province, so as to provide theoretical basis of individualized medication for antiplatelet therapy in CHD patients. Methods A total of 501 CHD patients from June 2019 to November 2020 were detected for CYP2C19 * 2, CYP2C19 * 3 and CYP2C19 * 17 gene polymorphisms by digital fluorescence molecular hybridization technology. Results In 501 CHD patients, the genotype proportion of CYP2C19*1*17, CYP2C19*1*1, CYP2C19*1*2, CYP2C19*1*3, CYP2C19*2*2 and CYP2C19*2*3 were 0.80%, 44.11%, 36.13%, 6.39%, 8.98% and 3.59%, respectively; the proportion of metabolic phenotypes of CYP2C19: ultrafast(UM), extensive(EM), intermediate(IM) and poor(PM) were 0.80%, 44.11%, 42.51% and 12.58%, respectively. The allele frequencies of CYP2C19*1,*2,*3 and *17 were 65.77%, 28.84%, 4.99% and 0.40%, respectively. There were no significant difference in the distribution of CYP2C19 genotypes, alleles and metabolisms in different genders (P>0.05); there were no significant difference in the distribution of CYP2C19 alleles and metabolisms among Zhaoqing, Guangzhou, Foshan, Dongguan, Meizhou Hakka, as well as Northern Guangdong (P>0.05). Conclusion CYP2C19 gene polymorphism exists in CHD patients in Zhaoqing area, and the proportion of CYP2C19 * 2 and CYP2C19 * 3 functional deletion alleles is relatively higher. It is suggested that CYP2C19 gene polymorphism should firstly be detected in CHD patients before clopidogrel antiplatelet therapy, so as to evaluate the resistance risk of clopidogrel and develop a reasonable individualized medication plan for patients.

Key words: coronary disease, polymorphism, genetic, platelet aggregation inhibitors