ILA Pharmacogenomics

Question 1

polymorphisms

Answer 1

2 or more variant forms of specific DNA sequences

Question 2

CYP2C9

Answer 2

poor metabolizers → reduced doses of warfarin to reduce bleeding risk

Question 3

CYP2C19

Answer 3

extensive metabolizers → decreased therapeutic effects of omeprazole

Question 4

CYP2D6

Answer 4

poor metabolizers → increased risk of adverse affects of tricyclic antidepressants

ultra-rapid metabolizers → decreased therapeutic effects

Question 5

NAT2 (N-acetyl transferase)

Answer 5

slow acetylators → increased toxicity from drugs that are inactivated by acetylation

• tuberculosis drugs
  
  • rifampin, isoniazid, pyrazinamide

Question 6

Thiopurine S-methyltransferase (TPMT)

Answer 6

poor metabolizers → increased risks of bone marrow toxicity when treated with azathioprine or 6-mercaptopurine

Question 7

uridine diphosphate glucuronosyltransferate (UGT1A1)

Answer 7

homozygous poor metabolizers → increased risk of bone marrow toxicity in response to irinotecan

Question 8

Glucose-6-phosphate dehydrogenase (G6PD)

Answer 8

increased risk for hemolytic anemia with certain drugs in G6PD deficiency

• drugs that increase oxidative stress
• chloroquine and primaquine (malaria)
• rasburicase (lowers uric acid during chemo)
• sulfonamides
  
  • some NSAIDS

Question 9

HLA-B

Answer 9

risk of severe hypersensitivity reactions to various drugs

Abacavir

Question 10

VKORC-1

Answer 10

product of this gene is the target of warfarin

decreased dose requirements for one variant

Question 11

protein kinase inhibitors

Answer 11

used to treat cancers caused by overactive protein kinase pathways

Question 12

Gastrointestinal stromal tumors

Answer 12

Imatinib

used to inhibit C-kit protein kinase found in tumor