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Pharmacogenetics Midterm > PGx and PD > Flashcards

Flashcards in PGx and PD Deck (19):

Examples of G-protein coupled receptor

beta-adrenergic receptor, 5-HT (serotonin) receptor, mew-opioid receptor


Examples of transporter drugs

anti-arrythmics, antidepressants


G-protein coupled receptors

usually bind on the outside of the cell and signal transduction inside the cell gets triggered


Nuclear hormone receptors

target usually inside the cell


Enzyme targets for drugs example

ACE (angiotensin converting enzyme)


effect of polymorphisms on biologic response

developing tolerance to therapy (Down-regulation can be more pronounced in some pts than others depending on gene)


What are beta agonists used in?

Reactive airway disease (beta-2 agonists)



makes leukotrienes that cause a lot of inflammation in asthma pts (so "-lukast"s target them


ALOX5 polymorphism

*Decreased expression --> less affected by leukotriene inhibitors --> disease NOT mediated by leukotrienes
*Increased expression --> more responsive to leukotriene inhibitors --> leukotrienes have major role in disease


5-HT receptors

important in neuro disease
drugs used to target it are: 5-HT reuptake inhibitors, MAO inhibitors, atypical antipsychotics


Clozapine and 5-HT2A receptor

important for treatment of schizophrenia
pts with a polymorphism that has Tyr/Tyr instead of His/His will not respond to clozapine


µ-opioid receptor polymorphism

can have polymorphisms on the receptor itself that can cause decreased drug binding --> decreased efficacy --> require higher opioid doses


opioid analgesia

CYP2D6 converts codeine --> morphine
UGT converts morphine to inactive metabolite
If you have a polymorphism in 2D6, all you have is codeine and not morphine, you are not going to have analgesic effects (2D6 has to be active since codeine is a prodrug!)


When would there be increased toxicity of opioids?

If ultrarapid metabolizer of 2D6 and don't inactivate morphine as well (UGT)


When would there be lack of analgesia of opioids?

Poor metabolizer for CYP2D6
Mutation in opioid receptor


Risk factors for QT prolongation

female, other drugs that also cause QT-prolongation, other drugs that compete for metabolism
Hereditary= Long QT Syndrome (LQTS) = mutations in various ion channels (Affecting/ reducing K channels mostly and some Na channels)


LQTS Therapeutic considerations

Mutation in LQT1 or 2= K+ supplements may be more effective
Mutation in LQT3= Na supplements might be better


Abacavir hypersensitivity

used in HIV
clear assoc b/w rxn and HLAB*5701 (esp in whites)
has to do with MHC Class I presenting to immune cells through haptination
delayed onset rxn, T-cell mediated, cannot develop tolerance to this kind of rxn -- just gets worse with re-exposure
Carbamazepine and allopurinol also have similar rxn but ONLY abacavir and caramazepine need to be genotyped!!


Populations with carbamazepine and allopurinol

only in specific asian populations (so for carbamazepine you only need to screen specific pop)