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1.4 POM Genetics > Complex Disease and Pharmacogenetics > Flashcards

Complex Disease and Pharmacogenetics Flashcards

1
Q

What are Mendelian traits?

A

Trait depending only on a single genes

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2
Q

What is an example of a Mendelian trait in humans?

A

ABO blood group (chromosome 9)

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3
Q

What are Complex traits?

A

Traits controlled by multiple genes and environment

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4
Q

What are the 2 types of traits?

A

Medelian and complex

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5
Q

What are 4 examples of complex traits?

A
  1. Height
  2. Weight
  3. Intelligence
  4. Blood pressure
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6
Q

What is a complex disease?

A

Disease arising from a combination of genetic, environmental, and lifestyle factors

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7
Q

What is an example of a complex disease?

A

CVD

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8
Q

Are Mendelian and complex traits definitively separate?

A

No - more like a scale from mendelian to complex

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9
Q

What are 3 factors contributing to traits?

A
  1. Genetics
  2. Epigenetics
  3. Environment
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10
Q

What are the 3 factors influencing SCD?

A
  1. Genetics —> β-globin chain point mutation
    —> other genes influence severity
  2. Epigenetics —> POFH (foetal Hb)
  3. Environment —> hypoxia (temp, altitude, pollutants, diet, smoking)
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11
Q

What are the 3 causes of phenotypic differences?

A
  1. Genetic differences
  2. Shared environment
  3. Unique environment
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12
Q

How can environmental effects on phenotypes be studied and why?

A

Twin studies
- Monozygotic —> 100% same genes —> test differences in environment
- Dizygotic —> share genes and environment

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13
Q

How can the heritability of phenotypes be studied?

A

Twin studies

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14
Q

What is concordance in genetics?

A

Whether a trait is shared?

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15
Q

Why is concordance not the same as heritability?

A

Influenced by environment

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16
Q

What are SNPs?

A

Single Nucleoside Polymorphisms
- Change in single nucleotide in genetic sequence

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17
Q

Do SNPs in non-coding regions have phenotypic effects?

A

Yes

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18
Q

What are association studies?

A

Examine the association between certain SNP and disease risk

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19
Q

What are the genetic causes of the aggression trait? (2)

A
  1. X-linked MAOA gene SNPs
  2. COMT/5HTT
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20
Q

What are the issues with association studies between SNPs and disease risk?

A
  1. Biased towards genes with known biological pathways
  2. May be differences in alleles unrelated to disease
  3. Limited to protein-coding regions
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21
Q

What are GWAS?

A

Genome-wide association studies
- Examine the association between SNPs in whole genome and disease risk

22
Q

How did GWAS change ideas about the aggression trait?

A

Found SNPs in genes for…
1. Neuronal excitability
2. Astrocyte differentiation
3. Post-synaptic density
4. Other proteins with unknown functions

23
Q

What are the 5 benefits of GWAS?

A
  1. Can identify SNP-variant associations
  2. Identify risk individuals
  3. Discover new biological mechanisms
  4. Informed drug discovery
  5. Identify ethnic differences
24
Q

What are the 4 limitations of GWAS?

A
  1. Further testing required to identify causal variants
  2. Can’t identify all heritability
  3. Won’t detect rare variants (won’t meet threshold)
  4. Doesn’t consider environmental influences
25
How do most GWAS work?
Array panels ---> detect common variants and omit rare
26
What is the difference between GWAS and WGS?
WGS ---> scrutinise entire genome ---> see all SNPs
27
What type of genome study are we moving towards?
WGS
28
What is pharmacogenomics?
Study of variability in drug response due to genetic differences
29
What are the aims of pharmacogenomics?
Improve drug therapy and prescribing
30
How do genes affect drug effects? (2)
1. Drug toxicity 2. Drug efficacy
31
Why can variation in drug-related genes not be observed through clinical trials alone?
Variation too rare
32
What are the 5 steps of drug action in the body?
1. Absorption 2. Activation 3. Target 4. Effect or 4. Inactivation 5. Excretion
33
What is pharmacokinetics?
Studies what the body does to the drug
34
How are the majority of drugs administered and absorbed?
Orally ---> small intestine
35
What do drugs contain for absorption?
Specific transporter proteins
36
How do varying combinations of drug transporter proteins affect absorption?
Increase absorption or enhance removal
37
What is an SNP affecting drug absorption?
P-gp SNP affect digoxin/fexafenodine
38
How does a P-gp SNP affect digoxin/fexafenodine effect?
Decrease
39
How does drug metabolism influence a drug's effect?
Activate/inactivate drug
40
What is an example of drug metabolism effecting drug effect?
Ethanol metabolism
41
How do SNPs influence alcohol's effect?
Influence enzyme activity
42
What is a prodrug?
Pharmacologically inactive till metabolised in body
43
What is an inactive drug called?
Prodrug
44
Which gene is involved in the metabolism of many drugs?
CYP2D6
45
How does inheritance of CYP2D6 allelic variants effect the effect of drugs like codeine? (4)
1. 2 active alleles ---> ultra rapid metaboliser ---> too much effect 2. 1 fully active allele ---> extensive metaboliser ---> 3. 1 reduced function allele ---> intermediate metaboliser 4. 2 non-functional alleles ---> poor metaboliser ---> too little effect
46
What are the 4 targets of most drugs?
1. Receptors 2. Enzymes 3. Ion channels 4. Transport proteins
47
Which drugs are used in hypertension treatment?
β-blockade
47
What is the target of β-blockades?
β1 receptor in heart
48
How do SNPs affect β-blockade action?
Decrease receptor activation
49
How do β-blockades work?
1. Slow heart rate 2. Contractions weaker

1.4 POM Genetics (9 decks)

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