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MCB1 Block 4 > Multifactoral Disorders > Flashcards

Multifactoral Disorders Flashcards

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1
Q

Complex traits or multifactorial diseases result from what

A

complex interactions of genetic & enviornmental factors

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2
Q

Describe family clustering

A

“running in families”

families share genetic & environmental risk factors

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3
Q

are multifactoral disorders genetic?

A

combined affect of different genes but there is also environmental comnponene

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4
Q

Most phenotypic traits in humans are:

A

multifactorial traits

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5
Q

in fully penetrant diseases, other genes and enviornmental factors:

A

have no affect

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6
Q

describe penetrance in multifactorial diseases

A

each gene has reduced penetrance, and a lot of genes play a small part in the disease

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7
Q

what are polygenic traits

A

many different genes having affect on phenotype

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8
Q

what is susceptibility gene

A

some genes having larger effect on phenotype

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9
Q

what is oligogenic traits

A

multiple genes, but less (like 4-5 genes instead of 20)

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10
Q

what is variable expressivitiy

A

A common feature of multifactorial disorders, due to the interactions of these multiple genes with multiple environmental factors

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11
Q

what are quantitative traits

A

traits that have continuous variability

like height, body mass, cholesterol levels

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12
Q

what are qualitative traits

A

they are either present or absent

they have disease or they don’t have diseaes

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13
Q

height is example of what kind of trait

A

quantitative

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14
Q

what measures the spread of the curve

A

variance or standard deviation

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15
Q

quantitative traits generall folly what in the population

A

normal distribution

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16
Q

how do many genes lead to bell shaped curve (what theory)?

A

polygenic theory

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17
Q

what is polygenic theory

A

every gene has additive affect on phenotype, as you add more genes the distribuation will form a bell shaped curve, the more genes the more like a bell shaped curve it gets

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18
Q

what will give total risk person has for disease

A

add the genetic and enviornmental risk and protective factors

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19
Q

What is “Liability”

A

total risk that a person has, combined affect of all the differnent enviornmental and genetic factors
AKA susceptibility

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20
Q

Describe population/migration studies

A

look at different incidence rates among different populations - try to see what is enviornmental and what is genetic

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21
Q

Describe Adoption studies

A

compare adoptive family to biological family
adoptive family you can look at enviornment effects
biological family you can look at genetic effects

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22
Q

Describe Affected Family Studies

A

related family members at higher risk, this looks at the affected family members and try to see what they have in common vs. the unaffected family members

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23
Q

What are case-control studies

A

look at correlation b/w genetic and environmental factors

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24
Q

what is a good control that is not genetically related but same enviornment

A

spouses

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25
What is one way to measure (empirically) relative risk ratio
sibling risk ratio
26
what is the sibling risk ratio telling you
risk sibilng has compared to everyone else in population
27
if sibling risk ratio = 1 what does it mean
sibilng of affected person no more likely to have disease than anyone else in population
28
if sibling risk ratio >1 what does it mean
sibilng more likely than other people in pop. to have disease
29
what is the sibilng risk ratio
prevalence of disease in the sibilngs of affected person/ prevalence of diseases in the general population
30
in general, the greater the number of affected relatives, the:
greater the genetic effect
31
what are the advantages of twins
age matched genetic similarity intrauterine and early childhood environments similarity
32
what are thw two types of twins
monozygotic & dizygotic twins
33
wht are monozygotic twins
genetically identical, same intrautrering enviornment
34
what are dizygotic twins
no more genetically identical than sibs | share intrauterine enironment
35
how many common genes do monozygotic twins have
100% of genes in common
36
what is concordance
measure of when 2 individuals share the same trait
37
what is discordance
individuals do not share the same trait
38
what are concordance rates for monozygotic twins
100%
39
what is the strongest indicator of genetic vs. enviornmental contribution
monozygotic concordance
40
the higher the monozygotic concordance rate, the:
higher the genetic component
41
If MZ > DZ concordance rates what does it mean
genetic component
42
If there are low concordance in MZ and DZ twins what does it suggest
stronger contribution of environmental factors
43
what is the bias in twin studies
MZ twins are treated more the same than DZ twins, so enviornment is more similar than DZ twins
44
can you do concordance studies with quantitative traits
no | can't do it with something like height
45
what do you use to study quantitative traits
heritability
46
what does heritability measure
compares degree of variance (spread of curve) b/w MZ & DZ twins
47
If h^2 = 1 what does it mean
condition is only genetically determined
48
If h^2 = 0 what does it mean
condition is only determined by enviornmental factors
49
the greater the h^2 number, the:
greater the genetic influence
50
how do quantitative traits determine qualitative traits
liability threshold model
51
describe liability threshold model
if person's liability exceeds some threshold, then disease will present once person is beyond threshold, the further they are beyond the threshold - the greater the severity of the presentation of disease
52
what happens to liability curve of family members of affected individual
the curve shifts to the right
53
how far curve is shifted to right in liability threshold model depends on what
the degree they are related - so first degree relatives will shift far to the right.
54
there is greater ____ in family members (regarding liability threshold model)
liability
55
the more severely the family member is, what happens to the liability curve
shifted further to right for them and family members
56
if uncommon gender is affected, what does that mean****
if uncommon gender is affected, their children are at higher risk of being affected, esp if their children are the common gender
57
are children of uncommon or common gender more at risk
uncommon gender
58
In a bell graph will the uncommon gender be the line to the right or the left
the left - the uncommon gender isn't the one who is usually affected, so when they are it is more severe
59
What are the two clinical types of Alzheimers
early onset | late onset
60
What is the MOI of alzheiemer (early onset)
AD
61
Which form of alzheimer is the sporadic form/multifactoral
late onset
62
What are the three genes that could lead to the familial form of alzheimers (they are mendelia AD)
``` amyloid precursor protein (APP) presenilin 1 (PSEN1) presenilin 2 (PSEN2) ```
63
What form in extracellular space in alzheimer
plaques
64
What does APP mutation lead to
more amyloid beta precurosr proteins - greater risk for alzherimer
65
What kind of mutation causes amyloid precursor protein (APP) presenilin 1 (PSEN1) presenilin 2 (PSEN2) to make alzheimer
Gain of function
66
What does ApoE stand for
Apolipoprotein E
67
What does ApoE do?
related to cholesterol
68
what are the three common alleles of APOE
epsilon2, 3, 4
69
what is result of epsilon 2 allele of APOE
protective
70
what does epsilon 3 do of APOE
wildtype
71
What does epsilon 4 of APOE do
greater risk of late-onset an sporadic form of AD
72
Alleles of APOE are associated with what
greater risk for alzheimers depending on which allele

MCB1 Block 4 (17 decks)

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