Genomics Flashcards by Tim Pulleyn

Q

amitryptyline metabolism pathway

A

2C19 activates it

2D6 deactivates

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Q

2D6 genotypes

A

normal = 1, 2

- non-functional = 3-8

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Q

amitryptyline 2C19 recommendations

A

avoid in ultrarapid and poor metabolizers

- standard dose in extensive and intermediate

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Q

amitryptyline 2D6 recommendations

A

avoid in ultrarapid and poor

- 25% reduction in intermediate

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Q

simvastatin gene involved in metabolism

A

SLCO1B1

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Q

simvastatin genotypes/phenotypes

A

TT = standard
TC = intermediate
CC = low function

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Q

simvastatin dosing recommendations

A

TT = normal
TC = lower dose or alternative
CC = lower dose or alternative

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Q

methotrexate metabolism by

A

SLC19A1

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Q

methotrexate mutation

A

SNP at SLC19A1

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Q

methotrexate recommendations

A

no definitive recommendations

-higher risk of toxicity has been seen

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Q

clopidogrel metabolism

A

2C19

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Q

clopidogrel phenotypes

A

Ultra = 17
extensive = 1/1
intermediate = 1 and 2-8 or 17 and 2-8
poor = 2-8

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Q

clopidogrel recommendations

A

any loss of function allele should get alternative therapy

-still use in ultra rapid

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Q

bupropion metabolised by

A

2B6

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Q

bupropion moderately inhibits

A

2D6

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Q

gene related to smoking cessation in bupropion

A

ANKK1

Q

bupropion recommendations

A

loss of 2B6 may need other treatment

- ANKK1 AA or AG may have decreased response

Q

codeine metabolism

A

2D6

Q

codeine recommendations

A

-alternative in ultra rapid and poor

Q

aripiprazole metabolism

A

3A4

2D6

Q

aripiprazole recommendations

A

poor 2D6 = reduce dose by half

- poor 2D6 + 3A4 inhib = reduce to 1/4

Q

drugs to do HLA-B*5701 test for

A

abacavir

carbamazepine

Q

patients to do HLA testing when using allopurinol

A

chinese

Q

warfarin metabolism

A

VKORC

2C9

normal VKORC1 genotypes

G | C

VKORC1 mutations

G > A | C > T

2C9 genotypes

1 - normal | 2,3 - reduced

warfarin recommendations

no specific, maybe use table

irinotecan mutation

UGT1A1*28

irinotecan recommendations

if UGT1A1*28 is present reduce dose by 30%

tamoxifen metabolism

*mainly activated 2D6* | some 2C9 and 3A4

tamoxifen recommendations

- avoid in poor - consider something else in intermediate - ultra rapid is fine

gene of interest in cetuximab and panitumumab

KRAS | if its not present then they won't work