Methodology of pharmacogenetics research: Casecontrol studies

Keywords: 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.


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How to Cite
Oscanoa TJ, Amado-Tineo J. Methodology of pharmacogenetics research: Casecontrol studies. Acta Med Peru [Internet]. 2022Aug.13 [cited 2024Apr.17];39(2). Available from: