Abstract

OSCANOA, Teodoro J.  and  AMADO-TINEO, Jose. Methodology for research in pharmacogenetics: Case-control studies. Acta méd. Peru [online]. 2022, vol.39, n.2, pp.166-173.  Epub Aug 17, 2022. ISSN 1728-5917.  http://dx.doi.org/10.35663/amp.2022.392.2346.

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.

Keywords : Pharmacogenetics; Research Methodology; Genetic Association Study; Phenoconversion; Data Collection.

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