Pharmacology Book

Metabolic Disorders

  • Genetic Determinants of Drug Response

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Genetic Determinants of Drug ResponseAka: Pharmacogenomics, Pharmacogenetics

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  1. Definition
    1. Genetic polymorphism as it relates to medication response
  2. Examples
    1. CYP2D6 Deficiency
      1. No response to codeine in 10% of patients
      2. Exaggerated response to Fluoxetine and Nortriptyline
    2. CYP2C9 Deficiency
      1. Higher risk of toxicity and bleeding complications
      2. Reaching a steady-state INR on Coumadin requires >3 months
    3. TPMT Deficiency
      1. Severe hematologic response to Azathioprine and mercaptopurine
    4. ADRB2 Variant
      1. Asthma status worsens on Inhaled Beta Agonist (e.g. Albuterol)
  3. References
    1. Evans (2003) N Engl J Med 348:538
    2. Lanfear (2007) Am Fam Physician 76:1179
    3. Meyer (2000) Lancet 356:1667

Pharmacogenetics (C0031325)

Definition (MSH)A branch of genetics which deals with the genetic variability in individual responses to drugs and drug metabolism (BIOTRANSFORMATION).
Definition (CSP)branch of genetics (the branch of science concerned with the means and consequences of transmission and generation of the components of biological inheritance) which deals with the genetic variability in individual responses to drugs and drug metabolism.
Definition (NCI)Pharmacogenetics is broadly defined as the effect of inheritance on individual variations in response to drugs and xenobiotics. These variations may involve individual differences in therapeutic efficacy or adverse drug reactions. (from Medscape)
ConceptsBiomedical Occupation or Discipline (T091)
MSHD010597
EnglishPHARMACOGENET, Pharmacogenetics
Parent ConceptsScience of genetics (C0017398), Pharmacology (C0031330)
SourcesCSP, LCH, MSH, NCI
Derived from the NIH UMLS (Unified Medical Language System)


Pharmacogenomics Domain (C1882354)

Definition (NCI)Pharmacogenomics findings that initially focus on genotype and gene expression data.
Definition (NCI)A subject domain utilized for the submission of information encompassing and representing data, vocabulary or records related to pharmacogenomics.
ConceptsIdea or Concept (T078)
EnglishPG, Pharmacogenomics, Pharmacogenomics Domain
Parent ConceptsDomain (trial submission dataset) (C1883204)
SourcesMTH, NCI
Derived from the NIH UMLS (Unified Medical Language System)



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