Đặc điểm đa hình rs4244285 của gen CYP2C19 và một số yếu tố liên quan kết quả điều trị ở người bệnh trào ngược dạ dày thực quản

Abstract

Gastroesophageal reflux disease (GERD) is one of the most common gastrointestinal disorders. The rs4244285 polymorphism of the CYP2C19 gene directly influences the metabolism of proton pump inhibitors (PPIs), the mainstay pharmacological treatment for GERD. A non-controlled interventional study was conducted on 90 patients diagnosed with GERD confirmed by esophagogastroduodenoscopy between May 2025 and December 2025. The mean age was 60.5 ± 14.8 years old, study subjects were predominantly females at 52.2%. The frequencies of the GG, GA, and AA genotypes were 40.0%, 38.9%, and 21.1%, respectively. The G allele frequency was 59.4% and the A allele frequency was 40.6%. The rate of symptomatic resolution of heartburn and regurgitation following treatment was 82.2%. The GERD-Q score decreased significantly from a median of 8.0 [7.0 – 10.0] to 6.0 [5.0 – 8.0] post-treatment. Carriers of the GA+AA genotype demonstrated a higher likelihood of treatment response compared to GG homozygotes. Factors associated with favorable treatment outcomes included age groups 40 – 59 years old and ≥ 60 years old, as well as higher baseline GERD-Q scores. The rs4244285 polymorphism of the CYP2C19 gene shows potential utility as a pharmacogenomic marker in predicting treatment outcomes in GERD.