CV genetics

Question 1

APOC3 mutations

Answer 1

• 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

Question 2

CV SNPs and GINA legislation

Answer 2

• 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

Question 3

Pharmacogenomic of clopidogrel

Answer 3

• 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