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Pharmacogenetics and Pharmacogenomics: Overview01:29

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Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
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Principles of Pharmacogenetics: Types of Genetic Variants01:27

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Pharmacogenetics of Drug Metabolism: Overview01:27

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Genetic polymorphism in drug metabolism is crucial to the inter-individual variability observed in drug responses. Drug metabolism primarily involves the chemical modification of drugs and other xenobiotics to enhance their elimination by increasing their polarity. Two main classes of enzymes mediate this biotransformation process: Phase I enzymes, primarily cytochrome P450s, catalyze oxidation and reduction reactions, while other enzymes, such as esterases, mediate hydrolysis, and Phase II...
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Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes01:28

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Cytochrome P450 (CYP450) enzymes are a superfamily of heme-containing monooxygenases that play a pivotal role in Phase I drug metabolism by catalyzing oxidation and reduction reactions.These enzymes transform lipophilic xenobiotics into more hydrophilic metabolites, facilitating subsequent Phase II conjugation and eventual excretion. The CYP450 family is classified into families (e.g., CYP1–CYP3) and subfamilies (e.g., CYP2A, CYP2C), based on amino acid sequence homology.CYP450...
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Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
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Inconsistencia en los grandes estudios farmacogenómicos.

Benjamin Haibe-Kains1, Nehme El-Hachem2, Nicolai Juul Birkbak3

  • 11] Institut de Recherches Cliniques de Montréal, University of Montreal, Montreal, Quebec, Canada [2] Ontario Cancer Institute, Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario M5G 2M9, Canada.

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|November 29, 2013
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Resumen

Dos estudios farmacogenómicos mostraron datos genómicos similares, pero datos de respuesta a los fármacos muy discordantes. Esta inconsistencia plantea preocupaciones para evaluar los vínculos entre genes y fármacos y seleccionar fármacos contra el cáncer.

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Área de la Ciencia:

  • La farmacogenómica es la farmacogenómica.
  • Genética La genética.
  • Descubrimiento de Drogas Descubrimiento de Drogas

Sus antecedentes:

  • Recientes estudios farmacogenómicos a gran escala ofrecen datos valiosos para comprender la respuesta a los medicamentos.
  • La consistencia de los datos genómicos en todos los estudios es crucial para una investigación confiable.
  • La variabilidad de la respuesta al fármaco presenta un desafío en la investigación farmacogenómica.

Objetivo del estudio:

  • Para comparar datos genómicos y mediciones de respuesta a fármacos entre dos estudios farmacogenómicos a gran escala.
  • Para identificar las posibles razones de la discordancia en los datos de respuesta a los medicamentos.
  • Evaluar las implicaciones de las inconsistencias de datos para la futura investigación farmacogenómica y el desarrollo de fármacos.

Principales métodos:

  • Análisis comparativo de conjuntos de datos genómicos de dos estudios independientes.
  • Análisis de las mediciones de la respuesta al fármaco reportadas en ambos estudios.
  • Revisión de la literatura para identificar fuentes potenciales de variabilidad.

Principales resultados:

  • Los datos genómicos estaban altamente correlacionados entre los dos estudios.
  • Los datos de respuesta a los fármacos mostraron una discordancia significativa entre los estudios.
  • La fuente de las inconsistencias observadas en la respuesta al fármaco sigue siendo indeterminada.

Conclusiones:

  • A pesar de los datos genómicos consistentes, las mediciones discordantes de la respuesta a los medicamentos plantean desafíos.
  • Las inconsistencias pueden afectar a la evaluación de las asociaciones genético-droga.
  • Se necesitan más investigaciones para resolver las discrepancias y garantizar la fiabilidad de los datos farmacogenómicos para aplicaciones clínicas y selección de fármacos.