Prevalence of CYP2C19 Variants in Patients with Cardiovascular Disease from the Yunnan-Guizhou Plateau in Southwestern China

Xiu-Ping Li,1,* Jun-Ling Wang,1,* San-Xi Lei,2 Bo-Yu Chen,2 Xiang Ma,2 Fei He,3 Chao-Fu Yue,4 Hong-Xia Liu,1 Jian-Peng Hu,1 Qian Xiong,1 Ting Ji,1 Zheng-Fu Zhang,5 Yong Sun,6 Hong-Wei Li1 1Department of Clinical Laboratory, Kunming Medical University Affiliated Qujing Hospital, Qujing, Yunnan Province, People’s Republic of China; 2Department of Cerebrovascular, Kunming Medical University Affiliated Qujing Hospital, Qujing, Yunnan Province, People’s Republic of China; 3Department of Orthopedics, Kunming Medical University Affiliated Qujing Hospital, Qujing, Yunnan Province, People’s Republic of China; 4Department of Intensive Care, Kunming Medical University Affiliated Qujing Hospital, Qujing, Yunnan Province, People’s Republic of China; 5College of Agriculture and Biological Science, Dali University, Dali, People’s Republic of China; 6Department of Cardiovascular, Kunming Medical University Affiliated Qujing Hospital, Qujing, Yunnan Province, People’s Republic of China*These authors contributed equally to this workCorrespondence: Hong-Wei Li, Department of Clinical Laboratory, Kunming Medical University Affiliated Qujing Hospital, Qujing, Yunnan Province, People’s Republic of China, Email [email protected] Yong Sun, Department of Cardiovascular, Kunming Medical University Affiliated Qujing Hospital, Qujing, Yunnan Province, People’s Republic of China, Email [email protected] and Purpose: The CYP2C19 enzyme is essential for activation of the antiplatelet drug clopidogrel. Genetic variations in CYP2C19 are known to influence individual drug responses. Here, differences in CYP2C19 alleles, genotypes, and phenotypes in patients with cardiovascular disease from the Yunnan-Guizhou Plateau were systematically surveyed to provide a reference for appropriate treatment approaches.Methods: The CYP2C19*2, *3, and *17 variants were determined by RT-qPCR in 1934 patients with cardiovascular disease from 10 different areas of the Yunnan-Guizhou Plateau. Clinical data were analyzed using χ2 tests.Results: The proportions of the CYP2C19*1, *2, *3, and *17 alleles in the study cohort were 64.94, 29.81, 4.42, and 0.83%, respectively, while the frequencies of nine observed genotypes (*1/*17, *1/*1, *2/*17, *3/*17, *1/*2, *1/*3, *2/*2, *2/*3, *3/*3) were 1.03, 42.09, 0.57, 0.05, 38.73, 5.95, 8.89, 2.53, and 0.16%, respectively. Four metabolic phenotypes were found in the population, namely, rapid (1.03%), normal (42.09%), intermediate (45.29%), and poor (11.58%) metabolizers. Regional differences in allele and phenotype distribution were observed.Conclusion: These results represent the first comprehensive profile of CYP2C19 variants in patients with cardiovascular disease from the Yunnan-Guizhou Plateau, offering a valuable genetic reference for the selection of optimal treatment strategies.Keywords: plateau, clopidogrel, CYP2C19, allele, genotype, phenotype