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Cooper AFN Pharm II > Exam V - Genomics > Flashcards

Exam V - Genomics Flashcards

1
Q

______________ refers to the variation of a single gene or relatively few genes influencing a drug response

A

Pharmacogenetics

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2
Q

___________ encompasses the genome (all genes)

*More than 1 genetic variant

A

Pharmacogenomics

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3
Q

The set of observable properties of an organism that are produced by the interaction of the genotype and the environment

*what you see on the pt d/t different genotypes

A

Phenotype

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4
Q

The genes that code for a trait

A

Genotypes

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5
Q

_______ specify the trait. _______ specify what form the gene takes.

*BLUE BOX

A

-Genes

-Alleles

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6
Q

The _________ makes guidelines for using genetics to select meds

A

CPIC

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7
Q

Inherited disorder in which the body cannot process the amino acids phenylalanine and tyrosine

A

Alkaptonuria

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8
Q

two or more forms of a gene that occupy a specific position on a specific chromosome

A

Allele

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9
Q

the fraction or percentage of times a specific allele is observed in proportion to the total of all possible alleles that could occur at a specific location on a chromosome

A

Allele Frequency

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10
Q

the DNA-containing structure of cellular organisms that contains all or most of the genes of the organism

A

Chromosome

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11
Q

the sequence of DNA that occupies a specific position on the chromosome and determines a particular characteristic in an organism

A

Gene

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12
Q

a representation of an organisms’ genetic makeup or the particular set of genes that the organism possesses

A

Genotype

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13
Q

having two different alleles for the same trait

A

Heterozygous

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14
Q

having an identical allele for a single trait

A

Homozygous

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15
Q

the observable physical or biochemical characteristics of the organisms genetic makeup

A

Phenotype

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16
Q

-a specific genetic alteration; occurs in more than 1% of the population

-Any genetic variation in the DNA sequence

-Can be used interchangeably with variant

A

Polymorphism

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17
Q

the most common type of genetic or allelic variation

A

Single Nucleotide Polymorphism (SNPs)

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18
Q

Poor metabolizer phenotype

A

PM

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19
Q

Intermediate metabolizer phenotype

A

IM

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20
Q

Extensive metabolizer phenotype

A

EM

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21
Q

Ultra-rapid metabolizer phenotype

A

UM

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22
Q

Variations in the DNA sequence that occur in at least 1% of the population

*BLUE BOX

A

Polymorphisms

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23
Q

1 nucleotide is exchanged for another in a given position

A

Single Nucleotide Polymorphism (SNPs)

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24
Q

Name the 3 areas of variations

A

-Drug-metabolizing enzymes

-Enzyme receptor genes

-Drug transporter genes

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25
Q

CYP450 Enzymes are phase ___ enzymes

A

Phase I

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26
Q

(t/f) Genes can be deleted or duplicated

A

True

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27
Q

Duplications __________ the overall activity score

*Increase or decrease

A

increase

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28
Q

What is the range for the allele numbers?

*BLUE BOX (the “normal” on the PowerPoint but this is just stating the total range of allele numbers not the normal value for normal metabolism)

A

0-3

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29
Q

Allele activity score of 0 is what polymorphism

A

PM

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30
Q

Allele activity score of 0.5 is what polymorphism

A

IM

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31
Q

Allele activity score of 1 is what polymorphism

A

Normal (no polymorphism)

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32
Q

Allele activity score of 1-2 is what polymorphism

A

EM

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33
Q

Allele activity score of greater or equal than 2 is what polymorphism

A

UM

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34
Q

Which CYP2D6 alleles are non-functional?

A

*3
*4
*5
*6

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35
Q

Which CYP2D6 alleles are fully functional?

A

*1
*2

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36
Q

Which CYP2D6 alleles have reduced function

A

*10
*17
*41

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37
Q

What is the most common non-functional CYP2D6 allele?

A

*4

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38
Q

Ur doing good

A

Good job

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39
Q

CYP2D6*4 is found w/ a frequency of approximately 20% in the _________ population

A

European

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40
Q

Codeine is a prodrug that is metabolized to ________

A

Morphine

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41
Q

What is the term for the metabolism of codeine to morphine

A

O-demethylation

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42
Q

What is the enzyme responsible for the metabolism of codeine to morphine

A

CYP2D6

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43
Q

With codeine administration, PMs and IMs of CYP2D6 are more likely to experience __________ pain relief

A

insufficient

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44
Q

With codeine administration, UMs of CYP2D6 are at an _________ risk for side effects (drowsiness and respiratory depression) due to higher systemic concentrations of morphine

A

-increased

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45
Q

With codeine administration, PMs of CYP2D6 have ___________ risk of gastrointestinal adverse effects (constipation)

A

decreased

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46
Q

With codeine administration, central side effects (sedation and dizziness) are __________ w/ PMs and EMs

A

The same

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47
Q

The ___________ properties associated with codeine are not affected by CYP2D6 activity.

A

antitussive

48
Q

According to CPIC guidelines, standard starting doses of codeine are recommended with close monitoring in which two polymorphisms?

Especially in which one?

A

-EMs & IMs

-IMs

49
Q

Regarding codeine, CPIC recommends use of an alternative agent in which two polymorphisms?

A

-PMs & UMs

*the two extremes

50
Q

Phase ___ enzyme biotransformation = Conjugation

A

Phase II

51
Q

Polymorphic Phase II enzymes cause what two things?

A

-Diminish drug elimination

-Increase risk for toxicities

52
Q

The UGT1A1 Enzyme conjugates _________ ______ into lipophilic molecules

A

glucuronic acid

53
Q

(t/f) Reduced function polymorphisms of UGT1A1 are common

A

False

*very rare

54
Q

Regarding the UGT1A1 enzyme, *____ allele is common across 3 major ethnic groups

A

*28

55
Q

Individuals homozygous for UGT1A1*___ have 60%-70% increased levels of circulating unconjugated bilirubin due to a ~ 30% reduction in UGT1A1 activity (AKA Gilbert’s Disease)

*BLUE BOX

A

*28

56
Q

UGT1A1*28 causes a 60-70% increase in unconjugated ___________ d/t a ___% reduction in the UGT1A1 activity

*BLUE BOX

A

-bilirubin

-30% reduction

57
Q

UGT1A16 and UGT1A128 decrease the clearance of ____________

A

Irinotecan

58
Q

Irinotecan is a ______________ inhibitor prodrug used in first line chemotherapy for certain cancers

A

topoisomerase I

59
Q

Irinotecan is hydrolyzed by hepatic carboxylesterase enzymes to its cytotoxic metabolite, ____-____, which inhibits topoisomerase I and eventually leads to termination of DNA replication and cell death.

*this is what we want in cancer tx

A

SN-38

60
Q

With irinotecan, the active ____-____ metabolite is responsible for the majority of therapeutic action as well as the dose-limiting bone marrow and gastrointestinal toxicities

A

SN-38

61
Q

Which two UGT1A1 polymorphisms cause increased risk for severe life-threatening toxicities, eg, neutropenia and diarrhea, due to decreased clearance of the SN-38 metabolite

A

*6
*28

62
Q

What should you do to the dose of irinotecan in a pt w/ the homozygous polymorphisms *6 or *28

A

Decrease starting dose by at least one dose level

63
Q

Transporters work with _________-________ __________

A

drug-metabolizing enzymes

64
Q

(t/f) Genetic differences in transporter genes may increase risk for toxicities.

A

True

*they work w/ metabolizing enzymes so polymorphisms of transporters can cause toxicities just like w/ enzymes

65
Q

Plasma membrane transporters are located on __________ cells of many tissues

A

Epithelial

66
Q

Plasma membrane transporters are located on epithelial cells of what 3 tissues?

A

-Intestinal membranes

-Renal membranes

-Hepatic membranes

67
Q

The OATP1B1 transporter is encoded by the __________gene

A

SLCO1B1

*they transport OATs in Salt Lake City (SLC)

68
Q

The OATP1B1 transporter (encoded by theSLCO1B1gene) is located on the __________ membrane (facing the blood) of hepatocytes

A

-sinusoidal

69
Q

The OATP1B1 transporter is responsible for the hepatic uptake of mainly weakly _______ drugs and __________ compounds

A

-acidic

-endogenous

*you put some acidic fruit in ur OATmeal

70
Q

What 3 drugs/drug classes does the OATP1B1 transporter help metabolize?

A

-statins

-methotrexate

-bilirubin

*you have to eat OATmeal w/ ur statins b/c you have high cholesterol

71
Q

Over 40 nonsynonymous variants (nsSNPs) have been identified in this gene

A

SLCO1B1gene

72
Q

rs4149056
is a common ________ function polymorphism of the SLCO1B1gene (that codes for the OATP1B1 transporter)

A

Reduced

*R for Reduced

73
Q

What allele of the SLCO1B1 gene contains only rs4149056?

A

*5

74
Q

What 2 alleles of the SLCO1B1 gene are haplotypes containing rs4149056 and other variants?

A

*15
*17

75
Q

a group ofallelesin an organism that are inherited together from a single parent.

A

Haplotype

76
Q

rs4149056 variant is associated with what negative clinical effect?

A

Simvastatin-induced myopathy

77
Q

What 3 things should you do w/ simvastatin administration if you have alleles *5, *15, or *17 of the SLCO1B1 gene?

A

-lower the dose
OR
-change to pravastatin or rosuvastatin

-routine CK monitoring

78
Q

What 2 statins should you switch to if you have alleles *5, *15, or *17 of the SLCO1B1 gene?

A

-Pravastatin

OR

-Rosuvastatin

79
Q

What CPIC level?

genetic info SHOULD be used to change prescribing

(high or moderate evidence)

A

A

80
Q

What CPIC level?

genetic info COULD be used to change prescribing

(weak evidence w/ little conflicting data)

A

B

81
Q

What CPIC level?

Commonly used in tests

Evidence varies

No action recommeded

A

C

*C for commonly

82
Q

What CPIC level?

Don’t commonly test

Evidence varies

No action recommended

A

D

*D for don’t commonly test

83
Q

________ ________ ________ system or complex is a gene complexencoding themajor histocompatibility complex(MHC) proteins in humans. Thesecell-surface proteins are responsible for the regulation of the IMMUNE SYSTEMin humans

A

Human leukocyte antigen(HLA)

84
Q

Polymorphisms in HLA genes are associated w/ what 3 pathologies?

A

-Stevens-Johnson syndrome

-Toxic epidermal necrosis

-Drug-induced liver injury

85
Q

HLA polymorphisms are associated w/ __________ reactions

A

hypersensitivity reactions

*H for Hypersensitivity

86
Q

carbamazepine-induced skin toxicities have an increased prevalence in _______ ______ populations

A

East Asian

87
Q

What 4 drugs are effected by HLA polymorphisms

A

-Allopurinol

-Carbamazepine

-Abacavir

-Flucloxacillin

*this unit got me ready to HoLA FAAC

88
Q

All inherited causes of pseudocholinesterase deficiency are due to point mutations on chromosome ___

A

3

89
Q

What are the 2 most common variants of chromosome 3

A

-A variant

-K variant

*AK 47 (7-4 = 3, chromosome 3)

90
Q

Heterozygous chromosome 3 mutations → prolong relaxation __-__ times longer

A

3-8

91
Q

Homozygous → prolong relaxation up to ___ times longer d/t no psuedocholinesterase activity, & paralysis up to ______ after single induction dose

A

-60 times

-8hrs

92
Q

The ___-variant of chromosome 3 is fluoride resistant

A

F-variant

*F for fluoride

93
Q

What enzyme metabolizes opioids and what 3 opioids are listed in the PP chart (slide 23)

A

CYP2D6 Enzyme

-Codeine

-Tramadol

-Hydrocodone

94
Q

CYP2D6 w/ opioids:

____ polymorphism → higher risk for life-threatening side effects

A

UM

*ultra fast conversion to active metabolite (think about prodrug opioids)

95
Q

CYP2D6 w/ opioids:

____ polymorphism → mostly free of any adverse effects

A

PM

*poor metabolism of prodrug to active metabolite

96
Q

The OPRM1 gene codes for what receptor?

A

Mu Opioid Receptor (MOR)

*the OPioid Receptor M1 gene (OPRM1) codes for the MOR

97
Q

OPRM1 ____ genotype requires 93% higher morphine dose as compared to the OPRM1 ____

A

-GG

-AA (normal)

98
Q

Polymorphisms of the __-_________ transporter encoded by the ________ enzyme, effect opioid variability on resp depression

A

P-glycoprotein

ABCB1

*you can’t sing ur ABCs if ur Pulmonary system is out of breath

99
Q

Polymorphisms of P-glycoprotein transporter is associated with ________ methadone doses in methadone therapy heroin addicts

A

higher

100
Q

You look at the ______ gene for predicting morphine requirements

A

COMT

101
Q

_______ mutation is the cause of MH

A

RYR1

102
Q

The specific mutation in the RYR1 gene in MH is a subsitution of _____ for Arg614

A

Cys

*don’t use succs for intubation in pts w/ MH, use CYSatracurium

103
Q

Chromosome 3 mutations cause what?

A

Psuedocholinesterase deficiencies

104
Q

The underlying effect of 1 of the triggers of malignant hyperthermia (MH) is the rapid lease of ________ from the _________ _________

Results in a hypermetabolic state

A

-calcium

-sarcoplasmic reticulum

105
Q

-Central core disease (CCD)
-Myotonic muscular dystrophy
-Centronuclear myopathy
-King-Denborough syndrome

are inherited disorders that are associated with what disorder?

A

MH

106
Q

____% of patients treated with ondansetron will still experience PONV

A

35%

107
Q

100_-1-2AAG homomutant deletion polymorphism of 5HT3B receptors does what to PONV risk when administering ondansetron?

A

Increases PONV risk

*ondansetron isn’t gonna work

*my pts PONV went 0-100 real quik

108
Q

DRD2 Taq IA polymorphism of D2 receptors cause a ______ incidence of early PONV

A

higher

109
Q

Heterozygus or homozygus?

mu-opioid receptor A118G and COMTG1947 A mutation consumed less morphine in the postanesthetic recovery room and had less nausea

A

Heterozygous = less morphine & nausea

Homozygous = more morphine & nausea

*heterozygous is usually less bad than homozygous

110
Q

What 3 coag factor deficiencies have been consistently shown to correlate with increased propensity for bleeding

A

-von Willebrand

-Hemophilia A & B

111
Q

Fibrinogen b-chains
455 G/A
854 G/A
Bcl1
are associated w/ increased or decreased levels of fibrinogen?

A

Increased

*increased risk of thrombotic events

112
Q

Prothrombotic point mutation in factor V (factor V Leiden) results in __________ resistance and can increase the risk of ____ up to 50%

A

-Protein C

-MI

*Factor V protein C (kinda rhymes)
*VCR (V protein C Resistance)

113
Q

Polymorphisms in what 3 genes can cause post-CABG A-fib

A

IL-6

ACE

ApOE

114
Q

SNP of the _______ gene predicts post-CABG A-fib w/ 58.8% accuracy

A

IL-6

115
Q

What 3 meds can offer protection against post-CABG A-fib

A

Beta-blockers

ACE inhibitors

NSAIDs

*BAN a-fib w/ these drugs

Cooper AFN Pharm II (5 decks)

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