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Genomics/Pop Health Spring 2018 > Exam 1 > Flashcards

Flashcards in Exam 1 Deck (81)
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1

Interpreting P Values:
if P > 0.1

no significant association

2

Interpreting P Values:
if 0.05 < P < 0.1

marginal association

3

Interpreting P Values:
if P < 0.05

significant association

4

Interpreting P Values:
if P < 0.01

very significant association

5

Interpreting Odds Ratio
if OR = 1

no association

6

Interpreting Odds Ratio
if OR > 1

potential increasing risk

7

Interpreting Odds Ratio
if OR < 1

potential decreasing risk

8

Interpreting 95% CI:
if CI is greater than 1

significant risk effect

9

Interpreting 95% CI:
if CI contains 1

no statistical significance

10

Interpreting 95% CI:
if CI is less than 1

significant protective effect

11

what can be used to correct for false positives with SNPs?

Bonferroni Correction

12

what is the bonferroni correction?

corrected p value = 0.05 / n

(n = total number of SNPs)

13

what is IEM

inherited Erythromelalgia -- "man on fire" disease

14

IEM happens because?

Gain of function mutations of Nav1.7

15

what drug was found to have usefulness for pts with IEM/Nav1.7-V400M mutation

CBZ (carbamazepine)

16

_________ normalizes activation of Nav1.7-S241T & reverses hyper-excitability

carbamazepine

17

what is CYP2D6s clinical relevance

many relevant drugs (codeine, carvedilol, tramadol, fluoxetine, metoprolol, tamoxifen, hydrocodone, nortriptyline)

extreme variability in enzyme activity

18

If a pt is an ultra rapid metabolizer --- what is the effect on prodrugs that relate to that gene

actually have increased toxicity risk (because it is being converted so fast to active drug)

19

clinical relevane of CYP2C9

s-warfarin; phenytoin; glipizide

20

CYP2C19 clinical relevance **

clopidogrel!!!
PPIs
Antidepressants

21

clinical relevance of CYP3A5

tancrolimus
(need higher doses of it if CYP3A5 is expressed)

22

what is glucuronidation

conjugation of glucose at a functional group

23

why is UGT1A1 important

bilirubin, sex-steroid hormones,and bile acid

24

why is it important to replicate GWAS?

one set of a population is not always indicative of the whole population.... need bigger samples...

25

GWAS can find _______ not _______

find correlation
not cause/effect

26

what is the null hypothesis

NO ASSOCIATION b/w two things

(rejecting null happens when something is statistically significant)

27

For IEM pts, CBZ can cause a ______ shift to the curve

right shift

28

what is CBZ normally used for?

normally for seizures, it is a non-selective sodium channel blocker

29

what are MEA's used for?

MEA = Multi Electrode Array

they are used for extracellular recording of neuronal firing

30

CBZ tx in pts with the ______ mutation led a switch form chronic pain to acute pain

S241T