SNP's Flashcards

1
Q

CYP1A2

A

Caffeine metabolism r/t risk of heart attack (CYP450 family)

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2
Q

CYP3A4

A

drug metabolism (CYP450 family)

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3
Q

CYP19A1

A

aromatase / synthesis of estrogen (CYP450 family)

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4
Q

VDR

A

vitamin D binding

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5
Q

BCO1/BCMO1

A

beta carotene conversion to active vitamin A

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6
Q

MTHFR

A

detoxification & folate metabolism

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7
Q

COMT

A

detoxification and catecholamines

degrades dopamine, epinephrine, and norepinephrine

Mg dependent (supplement to “speed up” COMT)

Fast COMT - get rid of dopamine too quickly; low levels of all 3 catecholamines (supplement with quercitin to slow down)

also methylates estradiol (makes it less active in preparation for breakdown) - slow COMT - less efficient breakdown of estradiol - increased risk of

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8
Q

ACE

A

salt-sensitive hypertension

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9
Q

APOE4

A

increased Alzheimer’s risk

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10
Q

HLA-DQ2 & HLA-DQ8

A

celiac disease risk

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11
Q

APOA2

A

increased risk of obesity with high saturated fat diet above 22 g/day

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12
Q

MTNR18

A

delay in melatonin getting turned off
delay in insulin getting turned on

since insulin isn’t present, high blood sugar

increased risk of T2D

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13
Q

SNPs are really what

A

Enzymes

When we say we that we are up regulating a SNP, we are really saying that we are up-regulating that particular enzyme

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14
Q

ACE alleles and what they do

A

GA/AA - unregulated enzyme; salt has impact on hypertension

GG - no change in enzyme; reduced salt will not have positive impact on blood pressure

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