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Genetics of psychiatry Flashcards

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1
Q

Risk of developing schizophrenia for the general population

A

1%

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2
Q

Risk of developing schizophrenia with an affected sibling

A

9%

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3
Q

Risk of developing schizophrenia with an affected child

A

6%

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4
Q

Risk of developing schizophrenia with an affected parent

A

13%

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5
Q

Risk of developing schizophrenia with an affected DZ twin

A

17%

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6
Q

Risk of developing schizophrenia with an affected MZ twin

A

48%

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7
Q

Most frequently developed personality disorder among patients with a relative with schizophrenia

A

Schizotypal disorder

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8
Q

Type of schizophrenia with highest MZ twin concordance

A

Hebephrenic

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9
Q

Most likely candidate genes and chromosomes for schizophrenia

A

COMT gene - chromosome 22
Dysbindin gene - 6p22.3
Neuregulin 1 gene - 8p21-22
DISC1 - chromosome 1

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10
Q

Action of COMT protein coded for by COMT gene which may be relevant to its role in schizophrenia

A

Degrades catecholamines including dopamine, adrenaline and noradrenaline

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11
Q

Inherited disorder which has a significant risk of psychosis and where the COMT gene is deleted

A

DiGeorge syndrome

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12
Q

Risk of schizophrenia among patients with DiGeorge syndrome

A

20-25%

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13
Q

Action of neuregulin seen in patients with schizophrenia which may affect presentation

A

Suppresses NMDA receptors leading to lowered glutamate levels

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14
Q

Age of onset of schizophrenia among patients with a stronger family background

A

Younger on average

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15
Q

Risk of bipolar disorder among the general population

A

0.5-1.5%

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16
Q

Risk of bipolar disorder with an affected first degree relative

A

5-10%

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17
Q

Risk of bipolar disorder with an affected MZ twin

A

40-70%

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18
Q

Genes and loci suspected in bipolar disorder

A

BDNF gene 11p13
DAO G72/G30 13q33
COMT 22q11

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19
Q

Risk of unipolar depression with an affected first degree relative

A

5-30%

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20
Q

Suggested link between BDNF gene and depression

A

Decreased neurogenesis in the hippocampus seen in depression, which is dependent on BDNF

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21
Q

Genes and chromosomes affected by mutations that are implicated in familial Alzheimer’s disease before the age of 60

A

Amyloid precursor protein - chromosome 21
Presenilin 1 - chromosome 14
Presenilin 2 - chromosome 1

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22
Q

Gene and locus with the largest impact on Alzheimer’s dementia risk

A

APOE - chromosome 19q

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23
Q

Three co-dominant alleles of APOE

A

2
3
4

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24
Q

Protective APOE allele for Alzheimer’s dementia

A

2

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25
Q

APOE allele which increases risk for Alzheimer’s dementia

A

4

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26
Q

Risk of developing Alzheimer’s dementia with an affected first degree relative

A

15-20%

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27
Q

Personality disorder with the highest heritability

A

Antisocial PD

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28
Q

Outcome of adoption studies regarding alcohol dependence

A

No protection in adopted children being raised away from alcohol dependent biological parents

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29
Q

Genes with the strongest contribution to risk of alcohol dependency

A

Alcohol dehydrogenase 1B and 1C - chromosome 4

Aldehyde dehydrogenase 2 - chromosome 12

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30
Q

First step in ethanol metabolism

A

Oxidation to aldehyde by alcohol dehydrogenase

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31
Q

Toxic intermediary in the breakdown of ethanol

A

Aldehyde

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32
Q

Second step in alcohol metabolism

A

Metabolism of aldehyde to acetate by aldehyde dehydrogenase

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33
Q

Variations in proteins leading to unpleasant effects when drinking alcohol

A

Active forms of alcohol dehydrogenase

Inactive forms of aldehyde dehydrogenase

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34
Q

Gene associated with Parkinson’s disease which codes for alpha-synuclein

A

SNCA

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35
Q

Increased risk of Alzheimer’s in people who are heterozygous for APOE4 compared to the general population

A

3-4 x higher

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36
Q

Increased risk of Alzheimer’s disease in people who are homozygous for APOE4 compared to the general population

A

10-30 x higher

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37
Q

Number of years each APOE4 allele lowers the average age of developing Alzheimer’s disease

A

10 years

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38
Q

Gene which accounts for the majority of early onset familial Alzheimer’s cases

A

Presenilin 1 on chromosome 14

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39
Q

Risk of developing schizophrenia with an affected grandparent

A

5%

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40
Q

Risk of developing schizophrenia with two affected parents

A

46%

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41
Q

Risk of developing schizophrenia with an affected half sibling

A

6%

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42
Q

Risk of developing schizophrenia with an affected first cousin

A

2%

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43
Q

Risk of developing schizophrenia with an affected nephew/niece

A

2%

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44
Q

Risk of developing schizophrenia with an affected aunt/uncle

A

4%

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45
Q

Candidate genes for schizophrenia

A 
DTNBP1 (dysbindin)
COMT
NRG1 (neuregulin)
G72
RGS4
DAO1
DISC1
DRD2
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46
Q

Heritability estimate for schizophrenia

A

80%

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47
Q

Heritability estimate for bipolar disorder

A

> 80%

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48
Q

Heritability estimate for major depression

A

40%

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49
Q

Heritability estimate for alcohol dependence

A

60%

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50
Q

Virtually inactive form of aldehyde dehydrogenase which is a common polymorphism among some Asian groups and which leads to build up of toxic acetaldehyde when drinking alcohol

A

ALDH2*2

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51
Q

Proportion of people of Taiwanese, Han Chinese, and Japanese background who have ALDH2*2

A

50%

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52
Q

Polymorphism which causes the ‘Asian flushing reaction’ when drinking alcohol

A

ALDH2*2

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53
Q

Form of alcohol dehydrogenase which causes a slow first stage metabolism of alcohol leading to less build up of toxic acetaldehyde

A

ADH1B*1

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54
Q

Proportion of Caucasians who are homozygous for ADH1B*1

A

95%

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55
Q

Forms of alcohol dehydrogenase which code for a fast first stage of alcohol metabolism leading to increased build up of toxic acetaldehyde

A

ADH1C*1

ADH1B*2

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56
Q

Proportion of Caucasians who are heterozygous for ADH1B1/ADH1B2

A

5%

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57
Q

Genes associated with familial frontotemporal dementia

A

C9orf72 - chromosome 9
PGRN - chromosome 17
MAPT - chromosome 17

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58
Q

Most common gene associated with familial frontotemporal dementia

A

C9orf72 - chromosome 9

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59
Q

Condition associated with a mutation in the shank3 gene

A

Autism

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60
Q

Risk of unipolar depression in someone with no affected relatives

A

5-10%

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61
Q

Relative increased risk of unipolar depression in someone with a first degree relative with bipolar disorder

A

2-3 x higher

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62
Q

Relative increased risk of ADHD with an affected first degree relative

A

55x higher

63
Q

Relative increased risk of autism with an affected first degree relative

A

45x higher

64
Q

Relative increased risk of schizophrenia with an affected first degree relative

A

10x higher

65
Q

Relative increased risk of bipolar disorder with an affected first degree relative

A

7-11x higher

66
Q

Relative increased risk of alcoholism with an affected first degree relative

A

4-6x higher

67
Q

Relative increased risk of anorexia with an affected first degree relative

A

2-4x higher

68
Q

Relative increased risk of somatisation with an affected first degree relative

A

3x higher

69
Q

Relative increased risk of depression with an affected first degree relative

A

1.5-3x higher

70
Q

Relative increased risk of generalised anxiety disorder with an affected first degree relative

A

2-5x higher

71
Q

Condition associated with the susceptibility genes DRD4 and DRD5

A

ADHD

72
Q

Condition associated with the susceptibility gene ADH2

A

Alcohol dependence

73
Q

Condition associated with the susceptibility genes NLGN3 and NLGN4

A

Autism

74
Q

Enzyme affected by presenilin mutations in patients with early onset Alzheimer’s

A

Gamma secretase

75
Q

Protein mutation associated with ALS

A

Superoxide dismutase

76
Q

Gene most strongly implicated in ADHD

A

Dopamine 4 receptor gene

77
Q

Condition associated with SHANK3 mutation

A

Autism

78
Q

Recent genetic focus into schizophrenia associated with intellectual disability

A

Copy number variants

79
Q

Heritability estimate for autism

A

90%

80
Q

Chromosome location of presenelin 2

A

Chromosome 1

81
Q

Chromosome location of DISC1

A

Chromosome 1

82
Q

Chromosome location of DISC2

A

Chromosome 1

83
Q

Chromosome location of RGS4

A

Chromosome 1

84
Q

Chromosome location of 2q

A

Chromosome 2

85
Q

Condition associated with presenilin 2

A

Early onset Alzheimer’s dementia

86
Q

Conditions associated with DISC1

A

Schizophrenia

Bipolar disorder

87
Q

Condition associated with DISC2

A

Schizophrenia

88
Q

Condition associated with RGS4

A

Schizophrenia - interacts with neuregulin

89
Q

Condition associated with 2q

A

Autis

90
Q

Chromosome associated with Huntington disease

A

Chromosome 4

91
Q

Chromosome associated with Wolf-Hirschlorn disease

A

Chromosome 4

92
Q

Chromosome associated with Cri-du-chat

A

Chromosome 5

93
Q

Chromosome associated with dysbindin

A

Chromosome 6

94
Q

Condition associated with dysbindin

A

Schizophrenia

95
Q

Chromosome associated with PREP

A

Chromosome 6

96
Q

Condition associated with PREP

A

Mood disorders

97
Q

Chromosome associated with Williams syndrome

A

Chromosome 7

98
Q

Conditions associated with 7q

A

ASD

Williams syndrome

99
Q

Chromosome associated with neuregulin 1

A

Chromosome 8

100
Q

Conditions associated with neuregulin 1

A

Schizophrenia

Bipolar disorder

101
Q

Chromosome associated with tuberous sclerosis I

A

Chromosome 9

102
Q

Chromosome associated with brain derived neurotrophic factor

A

Chromosome 11

103
Q

Condition associated with brain derived neurotrophic factor

A

Rapid cycling bipolar disorder

104
Q

Chromosome associated with trait neuroticism

A

Chromosome 12

105
Q

Chromosome associated with Patau syndrome

A

Chromosome 13

106
Q

Chromosome associated with ATP7B

A

Chromosome 13

107
Q

Condition associated with ATP7B

A

Wilson’s disease

108
Q

Chromosome associated with DAO A (also known as G72)

A

Chromosome 13

109
Q

Conditions associated with DAO A (also known as G72)

A

Schizophrenia

Bipolar disorder

110
Q

Chromosome associated with presenilin 1

A

Chromosome 14

111
Q

Condition associated with presenilin 1

A

Early onset Alzheimer’s dementia

112
Q

Chromosome associated with Prader Willi

A

Chromosome 15

113
Q

Chromosome associated with Angelman’s syndrome

A

Chromosome 15

114
Q

Chromosome associated with tuberous sclerosis II

A

Chromosome 16

115
Q

Chromosome associated with C9ORF72

A

Chromosome 9

116
Q

Condition associated with CRO9F72

A

Familial frontotemporal dementia

117
Q

Chromosome associated with MAPT

A

Chromosome 17

118
Q

Conditions associated with MAPT

A

Familial frontotemporal dementia

Progressive supranuclear palsy

119
Q

Chromosome associated with progranulin (GRN)

A

Chromosome 17

120
Q

Condition associated with progranulin (GRN)

A

Familial frontotemporal dementia

121
Q

Chromosome associated with Smith-Magenis

A

Chromosome 17

122
Q

Chromosome associated with neurofibromatosis 1

A

Chromosome 17

123
Q

Chromosome associated with Edward’s syndrome

A

Chromosome 18

124
Q

Chromosome associated with APOE

A

Chromosome 19

125
Q

Condition associated with APOE 4

A

Late onset Alzheimer’s dementia

126
Q

Chromosome associated with Notch3

A

Chromosome 19

127
Q

Condition associated with Notch3

A

CADASIL

128
Q

Chromosome associated with PrP

A

Chromosome 20

129
Q

Condition associated with PrP

A

Familial CJD

130
Q

Chromosome associated with Down syndrome

A

Chromosome 21

131
Q

Chromosome associated with amyloid precursor protein

A

Chromosome 21

132
Q

Condition associated with amyloid precursor protein

A

Early onset Alzheimer’s dementia

133
Q

Chromosome associated with neurofibromatosis II

A

Chromosome 22

134
Q

Chromosome associated with DiGeorge syndrome

A

Chromosome 22

135
Q

Chromosome associated with COMT

A

Chromosome 22

136
Q

Conditions associated with COMT

A

Schizophrenia

Bipolar disorder

137
Q

Chromosome associated with alpha synuclein gene (SNCA)

A

Chromosome 4

138
Q

Condition associated with alpha synuclein gene (SNCA)

A

Parkinson’s disease

139
Q

Chromosome associated with the parkin gene (PRKN)

A

Chromosome 6

140
Q

Condition associated with the parkin gene (PRKN)

A

Parkinson’s disease

141
Q

Chromosome associated with the HTT gene

A

Chromosome 4

142
Q

Condition associated with the HTT gene

A

Huntington’s disease

143
Q

Condition associated with the HTT gene

A

Huntington’s disease

144
Q

Chromosome associated with LRRK2

A

Chromosome 12

145
Q

Condition associated with LRRK2

A

Parkinson’s disease

146
Q

Chromosome associated with PINK1 gene

A

Chromosome 1

147
Q

Condition associated with PINK1 gene

A

Parkinson’s disease

148
Q

Chromosome associated with PARK7

A

Chromosome 1

149
Q

Condition associated with PARK7

A

Parkinson’s disease

150
Q

Condition associated with PARK7

A

Parkinson’s disease

151
Q

Genes associated with dyslexia

A 
DCDC2
DYX1C1
KIAA0319
GCFC2
MRPL19
ROBO1
152
Q

Heritability of dyslexia

A

40-60%

153
Q

Neurodevelopmental condition associated with copy number variants

A

Autism

Genetics (9 decks)

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