Review Q's Week 5 Flashcards
1. genetics of CVS medicine (1-20) 2. pharmacogeneric and nutrigenetics (21-32) 3. physio coronary blood flow and reserve (33-62) 4. clinical med cardiovascular diseases (63-77)
Which of the following is more rare?
a. polygenetic diseases
b. multifactorial diseases
c. mendelian diseases
c. mendelian diseases
(aka monogenic diseases. they’re very rare and tend to run in families)
What is a genetic risk score?
its a way of accumulating genetic risks to evaluate the risk of a patient acquiring a disease
How do biobanks evaluate genetic variants?
detailed algorithms
Which if the following is a better predictor of coronary artery disease?
a. diabetes
b. metaGRS (genetics)
c. conventional risk factors
d. B and C are equal
c. conventional risk factors (ex/ smoking, diabetes, age, etc.)
** if you combine B+C, you’re able to get a better prediction
T/F: having high risk SNPs significantly raises the risk of getting coronary artery disease in both men and women
false, high risk SNPs does increase the risk that males get CAD four times, but for women, the high risk SNPs don’t cause a big change in cumulative risk of CAD
T/F: genetic information does not replace conventional risk factors
true, it acts to complement them
Who is more likely to benefit from intensive preventive interventions?
Men with high GRS (genetic risk factor) are more likely to benefit from intensive preventive interventions
How are Mendelian diseases inherited?
autosomal dominant
Individuals with the same Mendelian genotype can show different degrees of the phenotype referred to as
a. Penetrance
b. Expressivity
c. Pleiotropy
b. Expressivity
A family is known to have very high lipid levels, but the condiiton skipped one generation. What describes this?
a. Penetrance
b. Expressivity
c. Pleiotropy
a. Penetrance
The proportion of individuals with the genotype that exhibit the phenotype/disease is referred to as
a. Penetrance
b. Expressivity
c. Pleiotropy
a. Penetrance
A family who’s known to have Marfan’s syndrome has two kids. One of them has more extreme conditions (ex/ ocular symptoms) while the other has almost no symptoms. What most likely defines this senario?
a. Penetrance
b. Expressivity
c. Pleiotropy
b. Expressivity
A mutation in one gene can lead to more than one disease is referred to as
a. Penetrance
b. Expressivity
c. Pleiotropy
c. Pleiotropy
What kind inheritance does familial hypertrophic cardiomyopathy have? What two mutations are known to cause it?
autosomal dominant cardiac β-myosin heavy chain (MYH7) + cardiac myosin binding protein C (MYBPC3)
If a patient is suspected of having familial hypertrophic cardiomyopathy, what is the first genetic test looking for?
cardiac β-myosin heavy chain (MYH7) (check for this mutation first because it the most common)
How does a mutation in MYH7 cause hypertrophic cardiomyopathy? explain.
MYH7 is expressed predominantly in normal human ventricle and expressed in skeletal muscle tissues rich in slow-twitch type I muscle fibers. Changes in the relative abundance of this protein correlate with the contractile velocity of cardiac muscle
Which mutation causes more severe symptoms of familial hypertrophic cardiomyopathy?
a. cardiac β-myosin heavy chain (MYH7)
b. cardiac myosin binding protein C (MYBPC3)
a. cardiac β-myosin heavy chain (MYH7)
Which of most likely affected in patient with familial hypertrophic cardiomyopathy?
a. sarcomere
b. Z-disc
c. intracellular calcium modulators
a. sarcomere
What kind of mutation most commonly causes familial hypertrophic cardiomyopathy?
missense (amino acid change)
What’s the most common symptom of familial hypertrophic cardiomyopathy?
most patients are asymptomatic
Most common side effect of warfarin?
bleeding
Mechanism of action of warfarin.
Warfarin is a specific inhibitor of vitamin K expoide reductase (VKOR), which is involved in Vitamin K-dependent clotting factors
Which gene is responsible for making the enzyme that inactivates warfarin?
CYP2C9
CYP2C9 and VKORC1 enzyme activity increased. How do adjust the dosage of warfarin?
more dosage of warfarin is needed
What does VKORC1 enzyme do? Which genotype of this enzyme is more active?
blood clotting (Vitamin K-dependent clotting factors) GG genotype is most active
How much of variability is CYP2C9 and VKORC1 responsible for in warfarin response? a. 20% b. 30% c. 40% d. 50%
c. 40% (age and weight= 15%)
What percent of patient taking Clopidogrel/Plavix show no response?
30%
Which isoenzyme has the most important role in Clopidogrel/Plavix?
CYP2C19
Whcih of the following CYP2C19 SNPs have a higher risk of major adverse cardiac events when using clopidogrel medication?
a. CYP2C19*2
b. CYP2C19*3
c. CYP2C19*17
a. CYP2C19*2 (Carriers of the CYP2C19*2 receiving clopidogrel are found to be associated with 42% of higher risk of major adverse cardiac events)
Which genotype is responsible for metabolizing caffeine?
a. CYP1A
b. CYP1B
c. CYP1C
d. CYP1D
a. CYP1A
How does aortic insufficiency affect the coronary blood flow? explain.
Which of the following has a better perfusion by intramural arteries?
a. subendocardium
b. subepicardium
b. subepicardium
How do you calculate the fractional flow reserve? What does it mean when fractional flow reserve is =1?
if it’s equal to one, then the flow or pressure before and after the plaque is the same and this is the normal value.
