Evaluation of CYP2C19 Gene Polymorphisms in Patients with Acid Peptic Disorders Treated with Esomeprazole

• DOI: 10.2147/pgpm.s285144
• Publication Date: 2021-04-28T21:16:24Z
• Authors: Lorena Díaz-Ordóñez; Diana Ramírez-Mon...; Estephania Candelo; Carolina González...; Sebastián Silva-Peña; Carlos Arturo Rojas; Mario Sepulveda C...; Hector Raul Echav...; Harry Pachajoa
• Keywords: Esomeprazole; Pharmacogenomics; Sanger sequencing

CYP2C19 is a highly polymorphic gene that encodes an enzyme with the same name and whose function associated metabolism of many important drugs, such as proton pump inhibitors (such esomeprazole, which used for treatment acid peptic disease). Genetic variants in alter protein affect drug metabolism. This study aims to genotypically phenotypically characterize genetic 12 patients disorders different therapeutic profiles inhibitor (PPI) drugs. The were randomly selected from controlled, randomized blinded clinical pilot trial 33 patients. We determined presence frequency single nucleotide polymorphisms (SNPs) within exons 1-5 9, intron-exon junctions, fragment 3' UTR region using Sanger sequencing. Undescribed analyzed by free online bioinformatics tools evaluate potential molecular effects these variants.We identified nine polymorphisms, six had no reported functions. One variants, functional impact, not yet (p.Arg132Trp) was predicted bioinformatic potentially pathogenic. finding suggests p.Arg132Trp could be related poor metabolizers drugs metabolized CYP2C19.We genotype spectrum CYP2C19. predict response support efficacy treated esomeprazole.