Met, asociado con una menor respuesta a metformina, se encontró presente en Amantaní (8,3%) y Lima (9,6%), y ausente en Taquile. Conclusiones: Para el alelo Val del gen OCT1, se ha encontrado la más alta frecuencia registrada en el mundo. Respecto al alelo Met, aunque es menos frecuente, existen diferencias entre las subpoblaciones peruanas evaluadas, y ese conocimiento puede ayudar en la farmacogenética y la toma de decisiones en el tratamiento con los antidiabéticos orales como la metformina. Palabras clave: Farmacogenética; Gen OCT1; Polimorfismo Val/Met; Diabetes; Metformina; Lima, Puno, Perú. Abstract Introduction: Pharmacogenetics can be used in clinical analysis to assess the efficiency of drugs according to the patient's genetic profile, and it is becoming important for population genetics and precision medicine. The type 2 diabetes mellitus (T2DM) is highly prevalent all over the world, including Peru. Among the different drugs for T2DM, metformin is used the most and patient's response to it can be influenced by the Val/Met polymorphism of the OCT1 (SLC22) gene, where Met is associated with a lower response. . The Val allele frequency was higher than 93%, the Met allele was associated with a lower response to metformin and was present in Amantaní (8.3%) and in Lima (9.6%), and absent in Taquile. Conclusions: We found the highest Val allele frequency in the world. Regarding the Met allele, less frequent, we found differences among the Peruvian subpopulations tested, and this knowledge can help in the pharmacogenetics and decision making about oral treatment of metformin against diabetes.

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