CYP2C19 Gene Polymorphism in Patients with Digestive Disease from Hezhou Area

The CYP2C19 gene, characterized by high polymorphism, plays a key role in interindividual variability in drug response, particularly for proton pump inhibitors (PPIs). However, data on CYP2C19 genetic distribution in the local Hezhou population of Guangxi Province remain limited. This study aimed to identify CYP2C19 polymorphisms in digestive disease patients in Hezhou and compare genotype prevalence across populations to clarify allele distribution patterns and optimize prescription strategies. A total of 95 patients with digestive disorders were analyzed using high-throughput sequencing to detect CYP2C19 variants, and genotype distribution was further compared across different ethnic groups. The allele frequencies of CYP2C19*1, *2, *3, and *17 were 93.68%, 40%, 8.42%, and 7.37%, respectively. In terms of metabolic phenotypes, normal metabolizers (*1/*1) comprised 47.37%, rapid metabolizers (*1/*17) 6.32%, intermediate metabolizers (*1/*2, *1/*3, *2/*17) 41.05%, and poor metabolizers (*2/*2, *2/*3) 5.26%. Statistical analysis revealed no significant differences in genotype distribution between males and females (p=0.548), across six digestive disease categories (p=0.956), or between Helicobacter pylori-positive and -negative groups (p=0.160). These findings suggest that CYP2C19 polymorphism is prevalent in the Hezhou population but shows no significant association with sex, digestive disease subtype, or H. pylori infection status. The results provide insight into the genetic landscape of CYP2C19 in this region and highlight the importance of considering genetic background in guiding rational PPI use, while also serving as a reference for personalized treatment strategies in populations with similar genetic structures.