jsuper512's version from 2015-05-04 10:42

Section 1

Question Answer
2C9*2Intermediate / poor metabolizer
2C9*3Poor metabolizer
2C9*6Null variant (rare)
2C9 clinical applications*Warfarin, *Phenytoin, NSAIDs, Sulfonylureas
2C19*2Poor metabolizer
2C19*3Poor metabolizer
2C19*17Ultra rapid metabolizer
2C19*4Null variant
2C19 clinical applications*Clopidogrel, Diazepam, *TCAs, PPIs
2D6*1/2xNUltra rapid metabolizer
2D6*10Poor metabolizer
2D6*17Poor metabolizer
2D6*3Null variant
2D6*4Null variant (most common in Caucasian)
2D6*5Null variant
2D6 clinical applications"Brain and Heart" *TCAs, SSRIs, Antipsychotics, *Codeine, Hydrocodone, Oxycodone, Dextromethorphan, Tramadol, Beta blockers, antiarrhythmics, tamoxifen

Section 2

Question Answer
UGT1A (UDP-glucuronosyltransferases) clinical applications*Irinotecan, atazanavir, NSAIDs, Mycophenolate
UGT1A*28Poor metabolizer
NAT2*4Normal acetylator
NAT2*non-4(*5,6,7)Slow acetylator
NAT2 clinical applicationsIsoniazid, Hydralazine, Sulfasalazine

Section 3

Question Answer
ABCB1 clinical applications + common variant allelesnot really used *1 = normal, *2,13 = common variant alleles
SLCO1B1*1AIncreased hepatocyte uptake
SLCO1B1*1BIncreased hepatocyte uptake
SLCO1B1*5Decreased hepatocyte uptake
SLCO1B1*15Decreased hepatocyte uptake
SLCO1B1*17Decreased hepatocyte uptake
SLCO1B1 clinical applicationsStatins - SLCO1B1*5 = lower dose for simvastatin

Section 4

Question Answer
VKORC1*2Decreased gene expression (need less drug) - strong link to disequilibrium
VKORC1*3Increased gene expression (need more drug)
VKORC1 clinical applicationWarfarin
ADRB1 389Decreased sensitivity to beta1 agonists (natural beta blockade)
ADRB1 49Increased sensitivity to beta1 agonists and resistant to desensitization
ADRB2 16Decreased sensitivity to beta2 agonists
ADRB2 27Increased sensitivity to beta2 agonists
HMGCR SNP 12Decreased statin effectiveness
HMGCR SNP 29Decreased statin effectiveness

Section 5

Question Answer
HLA-B*5701Positive = stop Abacavir
HLA-B*5801Positive? = caution Allopurinol
HLA-B*1502Positive = stop carbamazepine, caution? Phenytoin
G6PD Class IDeficient + risk of hemolytic anemia w/o challenge
G6PD Class II or IIIDeficient + risk of hemolytic anemia w/ medications
G6PD Class IVNormal; low risk of hemolytic anemia
G6PD clinical applications*Rasburicase(BBW), Primaquine, Sulfonylureas, Dapsone

Section 6

Question Answer
2C9 poor/intermediate metabolizerswhite > black > asian
2C19 poor metabolizers Asian > black > caucasian
2D6 poor metabolizerswhite > black > asian
2D6 ultra metabolizersequal
UGT poor metabolizersblack > white > asian
NAT slow acetylatorsblack / white > asian
SLCO1B1 increased hepatic uptakeblack > asian > white
SLCO1B1 decreased hepatic uptakewhite > asian > black
VKORC1 increased activityblack > white / asian
VKORC1 decreased activityAsian > white / black
ADRB1 decreased sensitivityblack > white / asian
ADRB2 sensitivityequal
HLA-B*5701white > certain asians > black / asian
HLA-B*5801asian > black / white
HLA-B*1502asian > black / white
G6PDblack > white / asian