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              Printable Handouts
Navigable Slide Index
- Introduction
- Pharmacogenetics
- Pharmacogenomics
- Pharmacogenetics: brief history
- Specific examples to be considered
- Debrisoquine (CYP2D6) polymorphism
- Debrisoquine polymorphism: studies on phenotype
- Cytochromes P450
- Molecular basis of CYP2D6 polymorphism
- Poor metabolism and CYP2D6 polymorphisms
- Copy number variants in CYP2D6
- Number of CYP2D6 genes and nortryptiline
- Tamoxifen and CYP2D6
- CYP2D6 and codeine
- Ultrarapid metabolizers and codeine
- CYP2C9
- Functional effect of CYP2C9 alleles
- Warfarin
- Vitamin K cycle
- CYP2C9 genotypes and warfarin
- Warfarin dose requirement
- Vitamin K epoxide reductase
- VKORC1 polymorphisms (1)
- VKORC1 polymorphisms (2)
- CYP2C9/VKORC1 genotype warfarin dose
- Warfarin and pharmacogenetics
- Association study on warfarin dose requirement
- Methyltransferases
- Thiopurine S-methyltransferase (TPMT)
- TPMT polymorphism (1)
- TPMT polymorphism (2)
- Idiosyncratic adverse drug reactions
- Simvastatin myopathy
- Flucloxacillin-induced liver injury
- Summary
- References
Topics Covered
- Definition and history
- CYP2D6 polymorphism
- Pharmacogenetics of warfarin
- Thiopurine methyltransferase
- Genetics susceptibility to adverse drug reactions
Links
Series:
Categories:
Talk Citation
Daly, A. (2009, December 28). Pharmacogenetics [Video file]. In The Biomedical & Life Sciences Collection, Henry Stewart Talks. Retrieved October 31, 2025, from https://doi.org/10.69645/CZYP1010.Export Citation (RIS)
Publication History
Financial Disclosures
- Professor Ann Daly has no commercial/financial relationships to disclose.
A selection of talks on Genetics & Epigenetics
Transcript
Please wait while the transcript is being prepared...
      
      
        
                  0:00
                
                
                  
                    Hello. I'm Ann Daly from
Newcastle University,
                  
                    and I want to
introduce you today
                  
                    to the topic of
pharmacogenetics.
                  
                
              
                  0:10
                
                
                  
                    What is pharmacogenetics?
                  
                    It's the study of unusual
responses to drugs
                  
                    and other foreign compounds
that have a hereditary basis.
                  
                    This is a term that
was first used in
                  
                    the 1950s by scientists
called Vogel and Motulsky.
                  
                
              
                  0:28
                
                
                  
                    More recently in the 1990s,
                  
                    the term pharmacogenomics
has emerged.
                  
                    Pharmacogenomics is
the individualization
                  
                    of drug therapy using
genomic information.
                  
                    Now that may involve using
                  
                    existing well known drugs
                  
                    or using genomic information
to develop new ones.
                  
                    Pharmacogenetics is a sub
specialty of pharmacogenomics.
                  
                    But there is considerable
overlap between
                  
                    these two subject areas
                  
                    and for the purposes
of this presentation,
                  
                    I'm not going to
differentiate between them.
                  
                
              
                  1:08
                
                
                  
                    This slide explains a little bit
                  
                    about the history of
pharmacogenetics.
                  
                    The first real
pharmacogenetic experiment
                  
                    was performed in 1932
                  
                    when Snyder showed
that inability to
                  
                    taste something called
phenylthiocarbamide,
                  
                    which has a bitter taste,
was genetically inherited.
                  
                    Some modern drugs have
                  
                    a similar structure to
phenylthiocarbamide.
                  
                    In the 1950s,
                  
                    when the term pharmacogenetics
                  
                    was actually
starting to be used,
                  
                    genetic polymorphisms
in at least three genes
                  
                    encoding glucose
6-phosphate dehydrogenase,
                  
                    butyrylcholinesterase and
acetylation were described.
                  
                    In the 1970s and 1980s,
                  
                    detailed studies showed
the existence of
                  
                    widespread polymorphism
in the cytochromes P450.
                  
                
               
       
     
                    
                     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
     
        
      
    