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Pharm 5 > Pharmacogenetics > Flashcards

Pharmacogenetics Flashcards

1
Q

Pharmacogenetics

A

study of genetic basis for variation in drug response

how variation in single genes influences response to single drug

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2
Q

Pharmacogenomics

A

study of how all genes can influence responses to drugs

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3
Q

Advantages of pharmacogenetics

A

patient selection
risk/AE
optimization of dosing
increased efficacy

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4
Q

Monogenic drug response

A

variation in single gene causing differences in specific response

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5
Q

Multigenic gene response

A

variation in multiple genes causing differences in specific drug response

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6
Q

Pharmacomicrobiomics

A

microbes activate/inactivate drugs, generate toxic byproducts, alter drug metabolism

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7
Q

Mutation

A

difference in DNA code that occurs in less than 1% of population

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8
Q

Polymorphism

A

difference in DNA code that occurs in >1% of population

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9
Q

Synonymous SNP

A

base pair change does not cause substitution
May result in decreased transcript stability or alter splicing
Causes change in protein expression/function

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10
Q

Non-synonymous SNP

A

base pair change leads to substitution

Result in change in protein structure, stability, affinity, stop codon

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11
Q

Non-coding SNP

A

no functional change

alter TF binding, splicing, transcript stability, enhancer function

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12
Q

Insertion/deletion

A

addition/loss of genetic material; frameshift

change in aa sequence of protein, intro of stop codon, alter promoter/enhancer

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13
Q

Copy number variation

A

complete deletion/duplication

GOF/LOF

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14
Q

Cosmopolitan polymorphism

A

common across all ethnic groups

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15
Q

Population polymorphism

A

polymorphisms differ between groups

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16
Q

Phenotype-to-genotype approach

A

measurement of pharmacogenetic traits

  1. measure pharmacogenetic trait
  2. genotype individuals from each group to determine if polymorphisms account for phenotype groups
17
Q

Pharmacogenetic trait

A

any measureable trait associated w/drug

18
Q

Candidate gene approach

A

determine polymorphisms by genotyping specific gene predicted to cause differences in pharmacogenetic trait between two groups
Requires knowledge of cellular mechanisms
Disadvantage - wrong gene might be studied

19
Q

Genome-wide approach

A

unbiased survey of difference in entire genome between two groups
No cellular mechanism knowledge needed
Disadvantage - identification of genetic difference that do not effect drug response

20
Q

CYP2D6 and tamoxifen

A

activated by CYP2D6 - inhibit estrogen receptor
Extensive metabolizers = high efficacy
Poor metabolizers = low efficacy - use aromatase inh

21
Q

CYP2D6 and Codeine

A

Extensive metabolizers = excessive side effects

Poor metabolizers = inadequate analgesia

22
Q

CYP2D6 and SSRI (Paroxetine

A

Inactivated by CYP2D6
Extensive metabolizers - less Paroxetine
Poor metabolizers - too much Paroxetine

23
Q

CYP2C19 and Clopidogrel

A

activated by CYP2C19
Poor metabolizers = might not get effect of drug
Increased risk of death from MI/stroke

24
Q

CYP2C19 and PPI (omeprazole, lansoprazole)

A

Inactivated by CYP2C19

Poor metabolizers = higher drug content = higher % of ulcer cure rate

25
Q

CYP2C19 and warfarin

A

inactivated by CYP2C19
reduced function alleles CYP2C19 1/2 - slow metabolism = higher risk for bleeds
Require lower dose and longer stabilization

26
Q

5-FU and DPD

A

DPD inactivates 5-FU

mut:A polymorphism = non-functional = high 5-FU toxicity

27
Q

6-MP and TPMT

A

TPMT inactivates 6-MP

mutant = non-functional = high 6-MP activity

28
Q

SLC01B1

A

Liver uptake of simvastatin - lower transport = high myopathy risk
T/T (val/val) = normal transport
T/C (val/ala) = decreased transport
C/C (ala/ala) = low transport

29
Q

ADRB2

A

Response to albuterol
Arg/Arg = reduced PEF - avoid albuterol
Gly/Gly = increased PEF - albuterol fine

30
Q

Pharmacodynamic phenotype

A

effect of polymorphism in gene that codes for drug targets (enzyme/receptor)

31
Q

VKORC1 and warfarin

A

Phenotypes - GG/GA/AA
AA has lowest activity
Less Vitamin K dependent clotting factors produced - lower warfarin dose required for therapeutic effect

32
Q

5-FU and thymidylate synthetase

A

mutation = higher TS activity = poor 5-FU effect

33
Q

Estrogen receptor

A

homozygotes for less common allele had greater increase of HDL following HRT

34
Q

Indirect phenotype

A

effects of polymorphisms do not interact with drug

35
Q

Factor V/Prothombin risk

A

increased risk of VTE w/oral contraceptives

36
Q

HLA-B*57:01 risk

A

high risk of ABC-HSN

no effects on PKX/PDX of abacavir

37
Q

APOE

A

absence of certain alleles = better success in Alzheimer Tacrine therapy

38
Q

Hep C

A

SNP polymorphism in IL-28B (CT/TT) = unfavorable response to INFa in Hep C

Pharm 5 (4 decks)

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