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
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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
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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
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