Farmacogenética I. Concepto, historia, objetivos y áreas de estudio

doi:10.1016/S0001-7310(06)73482-2

Actas Dermo-Sifiliográficas

Volume 97, Issue 10, December 2006, Pages 623-629

https://doi.org/10.1016/S0001-7310(06)73482-2 Get rights and content

Resumen

Existe una gran variabilidad interindividual en la respuesta a los medicamentos, tanto en lo referente a la efectividad como a la toxicidad, de forma que diferentes pacientes responden de forma dispar a la misma medicación. Esto es debido a factores genéticos y no genéticos. La farmacogenética es el estudio de la respuesta farmacológica del individuo según el genotipo. Su objetivo es optimizar el tratamiento a nivel individual, ir a una terapia personalizada más segura y eficiente que permita al clínico seleccionar el fármaco correcto, a la dosis adecuada, para el paciente indicado.

En la primera parte de esta revisión se analizan diferentes aspectos de la relación entre genética y respuesta terapéutica, así como el concepto, historia, objetivos y las diferentes áreas de estudio de la farmacogenética.

Abstract

There is great interindividual variability in the response to drugs, both in effectiveness and toxicity. Different patients respond differently to the same medication as a consequence of genetic and non-genetic factors. Pharmacogenetics represents the study of the individual pharmacological response based on the genotype. Its objective is to optimize treatment in an individual basis, thereby creating an individualized therapy, more safe and efficient, that will allow the clinician to select the correct drug, at the adequate dose, for the right patient.

In the first part of this review we discuss several aspects of the relationship between genetics and therapeutic response, as well as the concept, history, objectives and different areas of study of pharmacogenetics.

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Cited by (9)

Descriptive analysis of clinical trials with pharmacogenetics substudy submitted to the Ethics Committee of Andalusia, Spain (2005-2008)
2012, Medicina Clinica
Study of genetic polymorphisms in the tumor necrosis factor α promoter region in Spanish patients with psoriasis
2012, Actas Dermo-Sifiliograficas
En diversos estudios se ha descrito la asociación de los polimorfismos del factor de necrosis tumoral α (TNF-α) y patologías inflamatorias como la psoriasis vulgar y la artritis psoriásica, aunque los resultados son variables según la población de origen de la muestra. No se han realizado estudios previamente en población española.
Analizar los polimorfismos de la región promotora del gen del TNF-α en pacientes con psoriasis moderada-grave y establecer las posibles diferencias genotípicas con los hallados en un grupo de voluntarios sanos.
Se seleccionaron 89 pacientes con psoriasis moderada-grave y 76 controles sin antecedentes familiares ni personales de psoriasis. Se genotiparon los polimorfismos de la región promotora del gen del TNF-α en ambos grupos.
Observamos una mayor prevalencia de genotipo con ambos alelos en estado silvestre en posición -238 (GG, 86,5% vs 70,4% respectivamente) y -1031 (TT, 80,2% vs 45,8% respectivamente) en el grupo de pacientes con psoriasis al compararlo con el grupo control. Las diferencias halladas en posición -308 y -857 no fueron significativas.
Existen diferencias en los polimorfismos en las posiciones -238 y -1031 entre pacientes con psoriasis moderada-grave y voluntarios sanos, lo cual apoya la importancia del papel del TNF-α en la fisiopatología de esta entidad.
Several studies have reported an association between tumor necrosis factor α (TNF-α) polymorphisms and inflammatory diseases such as psoriasis vulgaris and psoriatic arthritis, although the results vary according to the population studied. No studies have been performed in the Spanish population.
To analyze the polymorphisms of the promoter region of the TNF-α gene in patients with moderate to severe psorasis and to identify potential differences in genotype compared to a group of healthy volunteers.
Eighty-nine patients with moderate to severe psoriasis and 76 healthy controls with no personal or family history of psoriasis were selected. Polymorphisms of the TNF-α promoter region of both groups were genotyped.
We observed a higher prevalence of the genotype with both wild-type alleles at positions -238 (GG genotype, 86.5% vs 70.4%, respectively) and -1031 (TT genotype, 80.2% vs 45.8%, respectively) in patients compared to the healthy control group. The differences at positions -308 and -857 were not significant.
There are differences in polymorphisms at positions -238 and -1031 in patients with moderate to severe psoriasis compared to healthy volunteers. This observation provides further support for the importance of the part that TNF-α plays in the pathophysiology of this disease.
Has the Human Genome Project Delivered for Healthcare?
2012, Annals of Medicine and Surgery
Citation Excerpt :
It was predicted that the HGP would eventually reward clinical medicine with novel approaches to treatment. Pharmacogenomics is the concept that drugs can be tailored to an individual's genetic make-up to increase their efficacy and safety;16 for example by identifying how cytochrome P450 variants metabolise drugs differently.17 Patients could also benefit from speedier recoveries without having to pursue different treatment regimens before the best is discovered.
Personalised medicine: metaverse or reality?
2023, Revista de la Sociedad Espanola del Dolor
Genetic Polymorphisms Associated With the Pharmacokinetics, Pharmacodynamics and Adverse Effects of Olanzapine, Aripiprazole and Risperidone
2021, Frontiers in Pharmacology
Pharmacogenetics update on biologic therapy in psoriasis
2020, Medicina (Lithuania)

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RevisiónFarmacogenética I. Concepto, historia, objetivos y áreas de estudioPharmacogenetics I. Concept, history, objectives and areas of study

Resumen

Abstract

Pharmacol Ther

Lancet

Lancet

Molecular structure of nucleic acids

Nature

To a future of genetic medicine

Nature

Initial sequencing and analysis of human genome

Nature

The human genome project and the future of diagnostics, treatment and prevention

Lancet

Finishing the euchromatic sequence of the human genome

Nature

Pharmacogenetics

Br Med J

Pharmacogenetics

Hum Mol Genet

Pharmacogenomics, biomarkers, and the promise of personalized medicine

Introduction to pharmacogenomics: promises, opportunities, and limitations

Hypothesis: comparisons of inter- and intra-individual variations can substitute for twin studies in drug research

Pharmacogenetics

Revisión
Farmacogenética I. Concepto, historia, objetivos y áreas de estudioPharmacogenetics I. Concept, history, objectives and areas of study