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MCB1 Block 4 > Multifactoral Disorders > Flashcards

Multifactoral Disorders Flashcards

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
Q

What is one way to measure (empirically) relative risk ratio

A

sibling risk ratio

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26
Q

what is the sibling risk ratio telling you

A

risk sibilng has compared to everyone else in population

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27
Q

if sibling risk ratio = 1 what does it mean

A

sibilng of affected person no more likely to have disease than anyone else in population

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28
Q

if sibling risk ratio >1 what does it mean

A

sibilng more likely than other people in pop. to have disease

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29
Q

what is the sibilng risk ratio

A

prevalence of disease in the sibilngs of affected person/ prevalence of diseases in the general population

30
Q

in general, the greater the number of affected relatives, the:

A

greater the genetic effect

31
Q

what are the advantages of twins

A

age matched
genetic similarity
intrauterine and early childhood environments similarity

32
Q

what are thw two types of twins

A

monozygotic & dizygotic twins

33
Q

wht are monozygotic twins

A

genetically identical, same intrautrering enviornment

34
Q

what are dizygotic twins

A

no more genetically identical than sibs

share intrauterine enironment

35
Q

how many common genes do monozygotic twins have

A

100% of genes in common

36
Q

what is concordance

A

measure of when 2 individuals share the same trait

37
Q

what is discordance

A

individuals do not share the same trait

38
Q

what are concordance rates for monozygotic twins

A

100%

39
Q

what is the strongest indicator of genetic vs. enviornmental contribution

A

monozygotic concordance

40
Q

the higher the monozygotic concordance rate, the:

A

higher the genetic component

41
Q

If MZ > DZ concordance rates what does it mean

A

genetic component

42
Q

If there are low concordance in MZ and DZ twins what does it suggest

A

stronger contribution of environmental factors

43
Q

what is the bias in twin studies

A

MZ twins are treated more the same than DZ twins, so enviornment is more similar than DZ twins

44
Q

can you do concordance studies with quantitative traits

A

no

can’t do it with something like height

45
Q

what do you use to study quantitative traits

A

heritability

46
Q

what does heritability measure

A

compares degree of variance (spread of curve) b/w MZ & DZ twins

47
Q

If h^2 = 1 what does it mean

A

condition is only genetically determined

48
Q

If h^2 = 0 what does it mean

A

condition is only determined by enviornmental factors

49
Q

the greater the h^2 number, the:

A

greater the genetic influence

50
Q

how do quantitative traits determine qualitative traits

A

liability threshold model

51
Q

describe liability threshold model

A

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
Q

what happens to liability curve of family members of affected individual

A

the curve shifts to the right

53
Q

how far curve is shifted to right in liability threshold model depends on what

A

the degree they are related - so first degree relatives will shift far to the right.

54
Q

there is greater ____ in family members (regarding liability threshold model)

A

liability

55
Q

the more severely the family member is, what happens to the liability curve

A

shifted further to right for them and family members

56
Q

if uncommon gender is affected, what does that mean**

A

if uncommon gender is affected, their children are at higher risk of being affected, esp if their children are the common gender

57
Q

are children of uncommon or common gender more at risk

A

uncommon gender

58
Q

In a bell graph will the uncommon gender be the line to the right or the left

A

the left - the uncommon gender isn’t the one who is usually affected, so when they are it is more severe

59
Q

What are the two clinical types of Alzheimers

A

early onset

late onset

60
Q

What is the MOI of alzheiemer (early onset)

A

AD

61
Q

Which form of alzheimer is the sporadic form/multifactoral

A

late onset

62
Q

What are the three genes that could lead to the familial form of alzheimers (they are mendelia AD)

A 
amyloid precursor protein (APP)
presenilin 1 (PSEN1) 
presenilin 2 (PSEN2)
63
Q

What form in extracellular space in alzheimer

A

plaques

64
Q

What does APP mutation lead to

A

more amyloid beta precurosr proteins - greater risk for alzherimer

65
Q

What kind of mutation causes amyloid precursor protein (APP)
presenilin 1 (PSEN1)
presenilin 2 (PSEN2)
to make alzheimer

A

Gain of function

66
Q

What does ApoE stand for

A

Apolipoprotein E

67
Q

What does ApoE do?

A

related to cholesterol

68
Q

what are the three common alleles of APOE

A

epsilon2, 3, 4

69
Q

what is result of epsilon 2 allele of APOE

A

protective

70
Q

what does epsilon 3 do of APOE

A

wildtype

71
Q

What does epsilon 4 of APOE do

A

greater risk of late-onset an sporadic form of AD

72
Q

Alleles of APOE are associated with what

A

greater risk for alzheimers depending on which allele

MCB1 Block 4 (17 decks)

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