Methodology of pharmacogenetics research: Casecontrol studies

• Autores: Oscanoa , Teodoro J., Amado-Tineo , Jose
• Formato: artículo
• Fecha de Publicación: 2022
• Institución: Colegio Médico del Perú
• Repositorio: Acta Médica Peruana
• Lenguaje: español
• OAI Identifier: oai:ojs.pkp.sfu.ca:article/2346
• Enlace del recurso: https://amp.cmp.org.pe/index.php/AMP/article/view/2346
• Nivel de acceso: acceso abierto
• Materia: Pharmacogenetics; Research Methodology; Genetic Association Study; Phenoconversion; Data Collection

Pharmacogenetics studies the association between the pharmacological phenotype of an individual with his/her genetic constitution. Case-control studies is a commonly used methodology when performing pharmacogenetics research. This design analyses the frequency of genetic variants in cases; that is, of those patients who have a particular phenotype (outcomes or results) compared with controls. For obtaining adequate methodological quality in pharmacogenetic case-control studies, it is important to work with precise phenotypes, have adequate case and control selection and appropriate sample size; select an adequate methodology for the identification of genetic variants, analyze the results using Hardy-Weinberg Equilibrium (HWE); and interpret the results considering the possibility of a phenoconversion phenomenon.