SNP's Flashcards
CYP1A2
Caffeine metabolism r/t risk of heart attack (CYP450 family)
CYP3A4
drug metabolism (CYP450 family)
CYP19A1
aromatase / synthesis of estrogen (CYP450 family)
VDR
vitamin D binding
BCO1/BCMO1
beta carotene conversion to active vitamin A
MTHFR
detoxification & folate metabolism
COMT
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
ACE
salt-sensitive hypertension
APOE4
increased Alzheimer’s risk
HLA-DQ2 & HLA-DQ8
celiac disease risk
APOA2
increased risk of obesity with high saturated fat diet above 22 g/day
MTNR18
delay in melatonin getting turned off
delay in insulin getting turned on
since insulin isn’t present, high blood sugar
increased risk of T2D
SNPs are really what
Enzymes
When we say we that we are up regulating a SNP, we are really saying that we are up-regulating that particular enzyme
ACE alleles and what they do
GA/AA - unregulated enzyme; salt has impact on hypertension
GG - no change in enzyme; reduced salt will not have positive impact on blood pressure