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Endocrine Pharm > Pharm Genomics > Flashcards

Pharm Genomics Flashcards

1
Q

What is PharmacoGENETICS?

A

Study of how variation in a single gene can affect response to a single drug.

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2
Q

What are the 4 applications for pharmacogenetics?

A
  • Appropriate Pt Selection
  • Optomization of drug dosing
  • ID Pt risk for adverse events
  • Increase efficiency of drug devt of clinical trials
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3
Q

What are the struggles of testing your drug on a diverse population?

A

Need to test a lot more people to see statistical significance
May be very effective in a select population but drug will never get to market.

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4
Q

What is a mutation?

A

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

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5
Q

What is a polymorphism?

A

Difference in DNA code that occurs in greater than 1% of the population

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6
Q

What is a SNP?

A

Single nucleotide polymorphism

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7
Q

What is the difference between a synonymous AA and a non-synonymous AA?

A

Syn- BP change does not cause AA subs
-Decreased transcript stability or aleter splicing
Non syn- Leads to AA substitution
-Change in protein structure, stability, substrate affinity, intro of a stop codon

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8
Q

What is a Copy Number Variation?

A

A copy number variation. complete deletion or duplication of a particular gene.

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9
Q

What is a Cosmopolitan Polymorphism?

A

Poly common across all ethnic groups

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10
Q

What is a population polymorhism?

A

Poly that differ between groups

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11
Q

What is the phenotype to genotype approach?

A

Directly measure pharmacogenetic trait (warfarin effects on blood coagulation)

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12
Q

What is a Pharmacogenetic trait?

A 
Measurable trait associated with a drug:
Enzyme activity
Drug levels in bodily fluids
Drug metabolites in bodily fluids
Physiological Response
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13
Q

What is the Candidate gene approach?

A

Genotyping a specific gene that is predicted to cause differences
Requires knowledge of cellular mechanism

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14
Q

What is the Genome wide approach?

A

Doesn’t require knowledge of cellular mechanisms resp. for trait
Unbiased survey of all differences in entire genome bet 2 groups

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15
Q

What are the techniqes used in Genome wide apporach?

A

Sanger sequencing (gold standard, expensive and time consuming)
SNP Microarrays
Next generation sequencing

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16
Q

What is the SNP Microarray Technique?

A

Simgle Stranded small fragments of genomic DNA where there are known to be SNPs, fixed to a slide
Ea spot on slide repesents either A or B allele

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17
Q

What is next Generation Sequencing

A

Allows us to sequence 25 GBases/day or 8 complete genome

Lots of computaional power needed

18
Q

What are the gene polymorphisms effecting pharm-Kinetics?

A 
Metabolic Ez-
CYP2D6
CYP2C19
CYP2C9
DPD (Dohydropyrimidine dehydrogenase)
TPMT(Thiopurine methyltransferase)
Drug Transporters-
Solute Carrier Organic Anion Transporter 1B1(SLCO1B1)
19
Q

What drugs does CYP2D6 Metabolize?

A

Tamoxifen
Codeine
Paroxetine

20
Q

How does CYP 2D6 effect Tamoxifen?

A

IT metabolizes and ACTIVATES IT! If they are poor metabolizers, they have a higher chance of relapse(best to use another drug(aromatase inhibitor))

21
Q

How does CYP 2D6 effect Codeine?

A

it ACTIVATES Codeine by converting it to Morphine. Pt can have either excessive SA or inadequate analgesia.

22
Q

How does CYP 2D6 effect Paroxetine?

A

Is INACTIVATED by metabolism.

Poor metabolizers have more SA.

23
Q

What drug does CYP 2C19 affect?

A

Clopidogrel

Omeprazole, Lansoprazole

24
Q

How does CYP 2C19 effect Clopidogrel?

A

It ACTIVATES Clopidogrel

Poor metabolizers will need to use a different drug

25
Q

How does CYP 2C19 effect Omeprazole and Lansoprazole(PPI)?

A

It INACTIVATES these PPIs. Poor metabolizers will have much higher levels

26
Q

How does CYP 2C9 affect Warfarin?

A

Warfarin inhibits activtion of VitK.
Slows blood clotting.
CYP 2C9 INACTIVATES Warfarin
Low metabolizers will have risk of bleeding because of buildup of warfarin

27
Q

What is the effect of VKORC1 on Warfarin?

A

It is the receptor that Warfarin acts on. Decreased Activity of it will mean less warfarin needed.

28
Q

What are the Polymorphisms that can effect cancer Tx?

A

5 fluorouracil

6 mercaptopurine

29
Q

What is the effect ot DPD on 5 FU?

A

5 FU is INACTIVATED by DPD.

Low activity of DPD may lead to life threatening myelosupression

30
Q

What is the Ez that 5FU acts on?

A

Thymidylate Synthetase

Pharmacodynamic phenotype

31
Q

What is the difference between pharm-kinetic/dynamic?

A

Pharmacokinetic is the body having effects on the Drug

Pharmacodynamic isthe effect that the drug has on the body

32
Q

What Ez acts on 6MP?

A

TPMT (Thiopurine methyltransferase)

33
Q

What effect will TPMT have on 6MP?

A

It INACTIVATES 6MP

34
Q

What is the effect of SLC01B1 on Simvastatin?

A

It is a transporter for the drug. Low activity decreases its import into the cell.

35
Q

Changes to which gene effect response to Albuterol?

A

ADRB2 increases the body’s response to Albuterol. low activity means they will have less effectiveness of Albuterol

36
Q

What are the Polymorphisms that can increase thromboembolisms?

A

Factor V polymorph.

Prothrombin polymorph.

37
Q

What is the risk of Thromboembolic polymorphisms?

A

Want to avoid prescribing oral contraceptives.

38
Q

What is the Mutation that will effect the chance of Adverse reactions to Abacavir?

A

ABC-HSR

will greatly increase the chance of developing Steven Johnson syndrome.

39
Q

What mutation can effect Alzheimers drug therapy?

A

APOE

Absence of this allele will equate to more effective therapy

40
Q

What are the polymorphic implications in Interferon alpha?

A

Int-a is a Tx for Heptatitis C Those without SNP poly in IL-28 gene have better response to Interferon

Endocrine Pharm (11 decks)

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