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Pharmacology Exam V > Pharmacogenomics > Flashcards

Pharmacogenomics Flashcards

1
Q

Pharmacogenetics

A

study of the genetic basis for variations in drug

response. Typical used to define the 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 of the genes (the genome) can

influence responses to drugs

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3
Q

Monogenic drug response

A

Variation in a single gene causing difference in specific drug response

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4
Q

Multigenic drug response

A

Variations in multiple genes causing difference in a specific drug response

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5
Q

Gene by environment phenotype

A

Drug response is a complex interplay between environmental and genetic factors

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6
Q

Mutation

A

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

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7
Q

Polymorphism

A

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

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8
Q

Allele

A

one of a number of alternate forms of a gene

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9
Q

SNP =

A

single nucleotide change in protein coding region

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10
Q

Synonymous SNP

A

NUCLEOTIDE CHANGE DOES NOT CAUSE AMINO ACID SUBSTITUTION

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11
Q

Non-synonymous SNP

A

LEADS TO AN AMINO ACID SUBSTITUTION

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12
Q

Indel

A

insertions/deletions

addition or loss of genetic material

can lead to frameshift - change AA or insert stop codon

alter promoter or enhancer - can increase transcription quantity

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13
Q

Most SNP’s are found

A

in regions that are NON-PROTEIN CODING REGIONS (enhancers, promoters, introns)

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14
Q

Copy number variation (CNV)

A

either complete deletion or duplication of a particular gene

gain or loss of function results

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15
Q

Cosmopolitan polymorphisms

A

polymorphisms common across all ethnic groups

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16
Q

Population polymorphisms

A

polymorphisms that differ between groups (ethnic or race)

17
Q

Phenotype to genotype approach

A

start out BY DIRECTLY MEASURING PHARMACOGENETIC TRAIT

18
Q

Pharmacogenetic trait

A

any measurable trait associated with DRUG ENZYME ACTIVITY, DRUG LEVELS IN BODY, DRUG METABOLITE IN BODY FLUIDS, PHYSIOLOGIC RESPONSE

19
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 MECHANISM

WRONG GENE MIGHT BE STUDIED

20
Q

Genome wide approach

A

DOES NOT REQUIRE KNOWLEDGE OF CELLULAR MECHANISM RESPONSIBLE FOR TRAIT

UNBIASED SURVEY OF ALL DIFFERENCE IN ENTIRE GENOME BETWEEN TWO GROUPS

identification that does not matter is disadvantage

21
Q

Three types of genome wide approach

A

sanger sequencing

SNP microarrays

Next generation sequencing

22
Q

4 polymorphisms of CYP2D6

A

ultra metabolizers
extensive metabolizers
intermediate metabolizers
poor metabolizers

23
Q

CYP2D6 metabolism (3 drugs) (pharmacodynamic or pharmacokinetic?)

A

tamoxifen
codeine
paroxetine

all three pharmacokinetic

24
Q

CYP2C19 metabolism (3 drugs)

A

Clopidogrel
Omeprazole
Lansoprazole

25
Q

CYP2C19 levels of metabolism (3)

A

normal
intermediate
poor

26
Q

CYP2C9 drug

Reduced function alleles?

A

warfarin

CYP2C92, CYP2C93 – metabolize slower, lower dose requirements

27
Q

Pharmacokinetic polymorphism of warfarin?

Pharmacodynamic polymorphism of warfarin?

A

CYP2C9

VKORC1

28
Q

VKORC1 SNP with lowest activity?

A

VKORC1-AA

29
Q

Polymorphisms affecting cancer treatment (2 drugs)

A

5-FU - DPD and TYMS enzymes

6-MP - TPMT enzyme

30
Q

Role of DPD with 5-FU (pharmacodynamic or pharmacokinetic?)

Role of TYMS with 5-FU(pharmacodynamic or pharmacokinetic?)

A

DPD inactivates 5-FU, REDUCES TOXICITY - DECREASED FUNCTION LEADS TO INCREASED TOXICITY (pharmacokinetic)

TYMS is inhibited by 5-FU normally - CAN HAVE INCREASED OR DECREASED ACITIVTY (pharmacodynamic)

31
Q

Role of TPMT with 6-MP

A

normally INACTIVATES 6-MP

32
Q

SLCO1B1 and Simvastatin (3 levels of function)

what chromosome?

(pharmacodynamic or pharmacokinetic?)

A 
normal transport (T/T genotype)
decreased transport (T/C genotype)
low transport (C/C genotype)

chromosome 12 highly associated

pharmacokinetic

33
Q

Estrogen receptor polymorphism

pharmacodynamic or pharmacokinetic?

A

intron between 1st and 2nd exon of ER-alpha gene

homozygotes for less common allele had GREATER INCREASE IN HDL LEVELS FOLLOWING HRT

pharmacodynamic

34
Q

ADRB2 phenotype and albuterol use

pharmacodynamic or pharmacokinetic?

A

ARG/ARG HOMOZYGOTES

DECREASED PEF WITH ALBUTEROL ADMINISTRATION

passive smoking augments down-regulatory effect

pharmacodynamic

35
Q

Indirect pharmacogenetic drug associations (4 drugs)

A

oral contraceptives
abacavir
APO-E and alzheimer’s drug therapy
interferon-alpha and Hep C

36
Q

Polymorphisms in what affect venous thromboembolism with oral contraceptives?

A

factor V and Prothrombin

37
Q

Abacavir phenotype

result?

A

HLA-B*57:01

HIGH RISK OF HYPERSENSITIVTY REACTION

38
Q

Apo-E phenotype

result?

A

ABSENCE OF CERTAIN ALLELES

better therapeutic success for therapy with tacrine in alzheimer’s disease

39
Q

SNP polymorphism associated with IFN-alpha effectiveness

A

IL-28B

CC - favorable response genotype
CT or TT - unfavorable response genotype

Pharmacology Exam V (11 decks)

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