Pharmacogenomic profile of actionable molecular variants related to drugs commonly used in anesthesia: WES analysis reveals new mutations

Autor: Juan Fernando Parada-Márquez, Nicolás David Maldonado-Rodriguez, Paula Triana-Fonseca, Nora Constanza Contreras-Bravo, Carlos Alberto Calderón-Ospina, Carlos M. Restrepo, Adrien Morel, Oscar Javier Ortega-Recalde, Daniel Felipe Silgado-Guzmán, Mariana Angulo-Aguado, Dora Janeth Fonseca-Mendoza
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Frontiers in Pharmacology, Vol 14 (2023)
Druh dokumentu: article
ISSN: 1663-9812
DOI: 10.3389/fphar.2023.1047854
Popis: Background: Genetic interindividual variability is associated with adverse drug reactions (ADRs) and affects the response to common drugs used in anesthesia. Despite their importance, these variants remain largely underexplored in Latin-American countries. This study describes rare and common variants found in genes related to metabolism of analgesic and anaesthetic drug in the Colombian population.Methods: We conducted a study that included 625 Colombian healthy individuals. We generated a subset of 14 genes implicated in metabolic pathways of common medications used in anesthesia and assessed them by whole-exome sequencing (WES). Variants were filtered using two pipelines: A) novel or rare (minor allele frequency—MAF
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