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Pharm Exam 5 > 71/72: Pharmacogenomics > Flashcards

71/72: Pharmacogenomics Flashcards

1
Q

pharmacogenetics =

A

study of how the genetic basis for variations in drugs response

study of how variation in single gene influences the response to a single drug

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2
Q

pharmacogenomics =

A

study of how all the genes can influence responses to drugs

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3
Q

monogenic v. multigenic responses

A

monogenic = variation in single gene causing dif in specific drug response

multigenic = variation in multiple genes causing dif in specific drug response

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4
Q

mutation =

A

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

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5
Q

polymorphism =

A

difference in DNA code that occurs in more than 1% of the population

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6
Q

allele =

A

one of a number of alternate forms of a gene

within a population, there can be many alleles of a particular gene, one person can have two alleles.

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7
Q

synonymous v. nonsynonymous SNPS

A

base pair change does not cause aa substitution (can change prtn expression/ splicing)

base pair change leads to aa substitution

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8
Q

non-coding SNPs can alter

A
  • transcription factor binding
  • splicing
  • transcript stability
  • enhancer function
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9
Q

complete deletion or duplication of a particular gene

A

copy number variants

gain or loss of function

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10
Q

cosmopolitan v. population polymorphisms

A

cosmo: common across all ethnic groups
pop: differ between groups

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11
Q

phenotype-to-genotype approach

A

start out by directly measuring pharmacogenetic trait (enzyme activity, phsyiological response, drug levels in body)

+ sum of all genes giving rise to effect
- non-genetic influences giving rise to and unstable responses

then, genotype individuals from each phenotype group to determine differences in DNA sequence ( candidate gene approach or genome-wide approach)

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12
Q

3 pharmacogenetic phenotypes

A

PHARMACOKINETIC - effect of polymorphism in a gene that regulates pharmacokinetics (metabolic enzymes or drug transporters)
- alters drug concentrations

PHARMACODYNAMIC - effect of polymorphism in gene that codes fro drug targets such as receptors or enzymes
- alters drug response

INDIRECT - effects of polymorphisms in a gene that does not interact with drug, not involved with disposition of drug

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13
Q

CYP2D6

A

ultrametabolizers (3/2 genes) –> poor (0/2) metabolizers

  • tamoxifen
  • codeine
  • SSRI paroxetine
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14
Q

tamoxifen

A

CYP2D6 status

needs to be activated using this gene

tamoxifen metabolites competitive inhibit estrogen receptor (needs to have functional CYP2D6 to work)

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15
Q

codeine

A

converted into active morphine by CYP2D6

analgesia (need enough -poor) and side effects (too much - ultra) need to be considered with mutations

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16
Q

SSRI paroxetine

A

paroxetine is degraded by CYP2D6

17
Q

CYP2C19

A
  • clopidogrel
  • omeprazole
  • lansoprazole
18
Q

clopidogrel

A

activated by CYP2C19 in liver

anticoagulant drug

19
Q

omeprazoel and lansoprazole

A

metabolized by CYP2C19

PPIs

20
Q

Warfarin

A

CYP2C9 clears and inactivates warfarin

VKORC1 (pharmacodynamic) mutations need to decreases warfarin because the enzyme already works less

21
Q

5- Flurouracil 5FU

A

DPD dihydropyrimide dehydrogenase
- inactivates active form of drug

TYMS thymidylate synthetase

  • drug target; polymorphisms can increase or decrease activity
  • pharmacodynamic

MOA: damages DNA by lowering dTTP levels and by being incorporated into DNA

22
Q

6-mercaptopurine 6MP

A

TPMT thiopurine methyltransferse

- inactivates the drug

23
Q

simvastatin induced myopathy …

A

associated with specific SNP on gene in chromosome 12 - SLCO1B!

  • effects liver uptake of simvastatin - decreased activity - more in plasma - more adverse effects (myopathy)
24
Q

polymorphisms in estrogen receptor ERa

A

homozygotes for less common allele had a greater increase in HDL (good cholesterol) levels following HRT

pharmacodynamic

25
Q

albuterol

A

polymorphism at 16th aa residue of ADRB2 decreases effectiveness of albuterol

arg/arg phenotype - don’t use
normal gly/gly phenotype - use albuterol

smoking (envirnoment) also effects

26
Q

polymorphisms in factor V and prothrombin _______ risk of VTE with oral contraceptives

A

increase

indirect pharmacogenetic phenotype

27
Q

abacavir

A

HIV drug

individuals with HLA-B*57:01 allele have a high risk of having hypersensitivity reaction to abacavir

indirect pharmacogenetic phenotype - no effect on pharmacokinetics or pharmacodynamics of abacavir

28
Q

tacrine

A

therapy for alzheimers disease

absence of certain alleles in APOE gene correlates with better therapeutic success

indirect pharmacogenetic phenotype

29
Q

predicted response to interferon alpha tx for hep C

A

SNP polymorphism in Il-28 gene- no polymorphism = better

indirect pharmacogenetic phenotype

Pharm Exam 5 (11 decks)

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