pharmacogenomics Flashcards
what is an ADR?
adverse drug reaction
WHAT IS THE 4TH leading cause of death?
adverse drug reaction
what contributes to differential response to medication? (5)
- pharmacogenetics
- demographic factors
- clinical factors
- dosing factors
- other factors
Name the ethnicity interaction of alcohol
flushing / palpitations in east asian descent
name the ethnicity interaction of hydralazine?
increased risk of heart failure in african-americans
T or F
We see more side effects in vulnerable groups
True
ex) old, babies, overweight, sick
T or F
glomerular filtration rate is lower in neonates
true
which enzymes - that are important for drug response - are low/not expressed in neonates?
CYPs and Phase II conjugating systems
what can be the results of regulatory variation?
increased expression
decreased expression
what can be the result of coding variation?
MISSENSE, stop/start loss, inframe insertion/deletion, frameshift etc
what can be the result of a splice-site variation?
create/ abolish acceptor site
create / abolish donor site
what is eQTL
expression quantitative trait loci
what is PGx
pharmacogenomics
what is precision health?
takes genetic and non-genetic factors into account
what is CYP2D6
metabolizing enzyme
why is CYP2D6 important for pharmacogenes
its polymorphic, can be variants to change its function
codeine is converted to ______ by________
morphine, CYP2D6
which drug can cause hearing loss?
ciplatin
what is the significance of TCERG1L with respect to cancer treatment?
TCERG1L is functionally linked to cisplatin toxicity
what is the other function of mercaptopurine and myelosuppression (other than cancer treatment)
AUTOIMMUNE DISEASES
what is the adverse drug affect of myelosuppression ?
hematological toxicity
what is the significance of TPMT (thiopurine methyltransferase) and cancer treatment?
alleles in this gene linked to the toxicity of mercaptopurine
what is the significance of NUDT15 gene with respect to cancer treatment?
alleles in this gene linked to toxicity of mercaptopurine
what is PharmGKB
provides curated info about human genetic variation and medications
WHAT genes are implicated in 6-mercaptopruine toxicity
NUD15
TMPT
