Pharmacogenomics

Question 1

pharmacogenomics

Answer 1

study of genomic influence on drug response

Question 2

pharmacogenetics

Answer 2

study of individual gene-drug rxns

-usually 1 or 2 genes having dominant effect on drug response

Question 3

mutation

Answer 3

altering DNA sequence - rare in population

Question 4

polymorphism

Answer 4

altering DNA sequence - common in population

-affect >1%

Question 5

single nucleotide polymorphism

Answer 5

most common - marker for pinpointing disease or mapping therapeutic outcome

1. coding nonsynonymous - changing base changes protein
2. coding synonymous - changing base does NOT change protein
3. noncoding

Question 6

indels

Answer 6

short repeats in the promote that add or subtract amino acids
-insertions/deletions

Question 7

copy number variation (CNVs)

Answer 7

genomic DNA involved in duplication, deletion, or inversion

Question 8

haplotype

Answer 8

combination of alleles or SNPs that tend to be inherited together - linkage disequilibrium
-determines the phenotype

Question 9

Beta2 adrenergic receptor polymorphisms

Answer 9

depending on haplotype of the patient, may not respond to albuterol to help relieve asthma
-may need to take more drug to have effect

Question 10

pharmacodynamics - simple mutation in drug receptor

Answer 10

can totally change the affect of the drug - change in drug target
-agonist –> partial agonist or vice versa for ex.

Question 11

pharmacokinetics polymorphisms

Answer 11

change in metabolizer enzyme function determines whether you get the therapeutic effect or side effects of the drug

• Active drug: increase dose with UM and decrease dose with PM
• Pro drug: decrease dose of UM and increase dose of PM

Question 12

cytochrome P450 enzymes

Answer 12

1. CYP2D6 - metabolizes codeine to morphine
2. 2C19 - metabolizes clopidogrel
3. 2C9 - metabolizes warfarin (anticoagulant) - CYP2C92 and CYP2C93 are polymorphisms decreasing warfarin metabolism; VKORC1 also has polymorphisms

Question 13

NAT2

Answer 13

phase 2 enzyme who metabolizing effects may lead to a higher susceptibility to cancer
-found in liver - activates and deactivates many chemicals such as cigarettes