tylerwise's version from 2015-05-03 01:45


Question Answer
PharmacogenomicsRole of inherited and acquired genetic variation in drug response
Focused on how the entire genome impacts drug response
PharmacogeneticsStudy of the genetic basis of inter-individual patient variability in the response to drug therapy
Focused on how individual genes impact drug response
ChromosomeThreadlike structure of nucleic acids and protein found in the nucleus of most living cells, carrying genetic information in the form of genes
GeneA series of codons that specifies a particular protein
CodonA series of three nucleic acids that code for one amino acid
PolymorphismVariations in the genome that occur at a frequency of at least 1% in the human population
GenotypeThe identity of alleles carried by an individual at a given gene locus
Homozygous genotypeTwo identical alleles
Heterozygous genotypeTwo different alleles
PhenotypeOutward expression of the genotype
Single nucleotide polymorphism (SNP)single-base difference that exists between individuals
Most common gene variation associated with drug response
SNP synonymousSNP that does not result in an amino acid substitution
AKA: silent SNPs
SNP non-synonymous substitutionSNP that results in an amino acid substitution
INDELInsertion or deletion of bases in the DNA of an organism
Linkage disequilibriumWhen two more more SNPs are inherited together more frequently than would be expected based on chance alone
HaplotypeA set of SNPs that are inherited together
AlleleSequence of nucleic acid bases at a given gene chromosomal locus
Wild-type alleleEither the most commonly occurring allele or the allele that was originally sequenced
Variant-type alleleAlternative allele
Null-variant alleleMutant copy of a gene that completely lacks the normal associated function
Copy number variationType of genetic variance in which entire copies of genes or gene segments >1kb in size are duplicated, deleted, or rearranged
Tag SNPA representative SNP in a region of the genome with high linkage disequilibrium (location of a haplotype)


Question Answer
HLA-B*5701 +Do not use Abacavir - HSR BBW
HLA-B*5701 TestingMUST pre-test all patients before using Abacavir
HLA-B*5801 +Caution use of Allopurinol - SCAR (HSR, SJS, TEN)
HLA-B*5801 TestingTest if mutation is suspected/possible
HLA-B*5701 PopulationEuropean
HLA-B*5801 PopulationAsian
HLA-B*1502 PopulationAsian
HLA-B*1502 +Do not use Carbamazepine - SJS/TEN - caution in +3 mths use w/o ADR
HLA-B*1502 TestingMUST pre-test all (suspected) patients before using Carbamazepine
HLA-B*1502 +Caution use of Phenytoin/Fosphenytoin in naive patients
HLA-B*1502 TestingTest if mutation is suspected/possible
G6PD PopulationMalaria-endemic countries i.e. asia, africa, mediterranean europe
G6PD Class 4Normal; Low risk of hemolytic anemia
G6PD Class 2/3Deficient; risk of hemolytic anemia with challenge
G6PD Class 1Deficient with CNSHA; risk of hemolytic anemia without challenge
G6PD +Do not use Rasburicase - BBW. Others include; primaquine, sulfonylureas, dapsone

Drug Targets

Question Answer
VKORC1*2Decreased gene expression = Higher INR/Higher drug efficacy
VKORC1*3Increased gene expression = Lower INR/Lower drug efficacy
VKORC1 DrugWarfarin
ADRB1*389Decreased sensitivity to beta agonists (natural beta blockade)
ADRB1*49Increased sensitivity to beta agonists (resistant to desensitization)
ADRB2*16Decreased sensitivity to beta agonists
ADRB2*27Increased sensitivity to beta agonists
HMGCR SNP 12/29Decreased statin effectiveness

Drug Transporters

Question Answer
ABCB1*2/*13Affects drug distribution into BBB
ABCB1 DrugsDigoxin, Statins, Protease inhibitors, Rifampin
SLCO1B1*1A/*1BIncreased hepatocyte uptake
SLCO1B1*5Decreased hepatocyte uptake
SLCO1B1*15Decreased hepatocyte uptake
SLCO1B1*17Decreased hepatocyte uptake
SLCO1B1 DrugsSimvastatin - use lower dose/alternative with low uptake

Phase II Metabolism

Question Answer
UGT1A*1Wild type
UGT1A*28Reduced activity
UGT1A DrugsIrinotecan
NAT1Polymorphisms uncommon
NAT2*4/*4Ultra-rapid acetylator
NAT2*4/*Non-4Intermediate acetylator
NAT2*Non-4/*Non-4Poor acetylator
NAT2 DrugsPoor acetylation - isoniazid, hydralazine, sulfasalazine

Phase I Metabolism

Question Answer
CYP2C9*1Wild type
CYP2C9*270-90% of activity
CYP2C9*310-30% of activity
CYP2C9*6Null type
CYP2C9 DrugsWarfarin, Phenytoin, NSAIDS, Sulfonylureas
CYP2C19*1Wild type
CYP2C19*2Poor metabolizers
CYP2C19*3Poor metabolizers
CYP2C19*17Ultra-rapid metabolizers
CYP2C19*4Null type
CYP2C19 DrugsClopidogrel, Diazepam, TCAs, PPIs, Voriconazole
CYP2D6*1Wild type
CYP2D6*2Wild type variant
CYP2D6*2xNUltra-rapid metabolizer
CYP2D6*10Poor metabolizers
CYP2D6*17Poor metabolizers
CYP2D6*3Null type
CYP2D6*4Null type
CYP2D6*5Null type
CYP2D6 DrugsBrain and Heart - Codeine/Opioids, BB, TCA, SSRI, DM

Racial Profiling

Question Answer
NAT*5/*6/*7Blacks and Caucasians
SLCO1B1*1A/*1BHigh in all (but lowest in Caucasians)
VKORC1*1Uncommon in all
ADRB1*1Caucasians and Asians
ADRB1 389Blacks
ADRB2No major differences in ethnicities
G6PD Class II and IIIBlacks