CV genetics Flashcards
1
Q
APOC3 mutations
A
- APOC3 inhibits lipase activity, leading to high TAGs
- Inhibiting or KOing APOC3 leads to increased TAG catabolism and thus lower blood TAGs
- People w/ mutations in APOC3 have lower TAGs and less of a risk for CV disease
- Inhibition of APOC3 may provide a Rx for CVD
2
Q
CV SNPs and GINA legislation
A
- CV SNPs: are not a good predictor of CVD at this time, do not recommend genetic testing for SNPs
- GINA: DONT FIRE ME bro/Bitch
3
Q
Pharmacogenomic of clopidogrel
A
- Clopidogrel activated (in part) by CYP2C19, and CYP2C19 may have LOF or GOF mutations which change the pts response to the drug
- The LOF mutations of CYP2C19 only explain 12% of the reduced efficacy of the drug in that population
- Other factors taken into account (age, LDL, HDL, TAGs) only account for 10% of the reduced efficacy
- Therefore >70% of the cause of reduced efficacy is still unknown
- Thus, it is still not worth getting genetically tested to see if the LOF exists