Pharmacogenomics Flashcards

1
Q

1842 First human drug metabolism experiment by Keller showed ________ acid converted in urine to hippuric acid

A

benzoic acid

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2
Q

______________ : study of the relationship between variations in a single gene (or small collection of genes) and variability in drug disposition, response, and toxicity.

A

pharmacogenetics (PGx)

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3
Q

_______________ : study of the relationship between variations in a large collection of genes (up to the whole genome) and variability in drug disposition, response, and toxicity.

A

pharmacogenomics

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4
Q

The liver’s primary mechanism for metabolizing drugs is via a group of cytochrome____________ enzymes

A

P-450

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5
Q

___________: mathematics of the time course of Absorption, Distribution, Metabolism, and Excretion of drugs

A

pharmacokinetics

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6
Q

Drug metabolism is usually monogenic/multigenic?

A

monogenic

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7
Q

Polymorphisms can affect protein function and can make ____________ bimodal or even trimodal

A

distribution

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8
Q

Variable ______________ phenotypes may influence drug dosing, efficacy, and/or toxicity

A

pharmacokinetic

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9
Q

Genetic variants in a metabolizing enzyme can alter enzyme _________, enzyme _________ or inactivate the enzyme

A

activity, affinity

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10
Q

Genetic variants in a metabolizing enzyme can ___________ clearance, ___________ the AUC and ______________half-life

A

decrease clearance
increase AUC
increase t1/2

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11
Q

Duplications/multiplications in a metabolizing enzyme are more rare but can ___________ clearance, ___________ the AUC and ______________half-life

A

increase clearance
decrease AUC
decrease t1/2

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12
Q

The impact of drug metabolizing enzyme gene variants on the pharmacologic effect and toxicity profile of a drug depends, in part, on whether the drug is active in its parent form or is a ___________

A

prodrug

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13
Q

Star nomenclature is typically numbered in order of _____________

A

discovery

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14
Q

1 / (1A/B/C) are typically ____________ allele

A

reference/normal

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15
Q

Some * alleles are defined by the presence of more than 1 variant in _____
Phasing is required

A

cis

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16
Q

Interpretation of phenotype requires knowledge of ____________, not just genotype

A

diplotype

17
Q

Break down CYP-2-C-19-*17

A

Superfamily - CYP
Family - 2
Subfamily - C
Gene - 19
Allelic variant *17

17
Q

FDA box warning discusses testing of _______________ for Plavix

A

CYP2C19

18
Q

___________ collects, curates and disseminates knowledge about the impact of human genetic variation on drug responses.”

A

PharmGKB

19
Q

PharmGKB Clinical Annotation Levels of Evidence

A

1A/B high, 2A/B moderate, 3 low, 4 preliminary

20
Q

PharmGKB may state that genetic testing for a drug is ____________ or ____________ and that it is _____________ or __________________

A

required or recommended
actionable or informative

21
Q

CPIC (2009 PGKC and PGRN) stands for ______________ ________________ _______________ _______________

A

Clinical Pharmacogenetics Implementation Consortium

22
Q

CPIC currently has ______________ guidelines

A

33

23
Q

_______________ is linked to statin-induced myopathy

A

SLC01B1

24
Q

SLCO1B1 : Gene expressed at the hepatic ____________ membrane that reabsorbs a variety of chemicals from plasma into the liver

A

sinusoidal

25
Q

*____ allele of SLC01B1 rs4149056 / p.Val174Ala results in lower transport into liver and decreases clearance of simvastatin = lower dose means that patient has greater exposure to active drug

A

5
SLCO1B1
5

26
Q

Number needed to __________________ is the number of tests that must be performed to affect healthcare

A

genotype (like number needed to treat)

27
Q

SLC01B1*5 rs4149056 involves a ______ to ________ mutation at 174

A

Val174Ala

28
Q
A