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

Background 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 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 , and 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 χ tests.

Results: The proportions of the , and alleles in the study cohort were 64.94, 29.81, 4.42, and 0.83%, respectively, while the frequencies of nine observed genotypes () 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 variants in patients with cardiovascular disease from the Yunnan-Guizhou Plateau, offering a valuable genetic reference for the selection of optimal treatment strategies.