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PSYC3302 > Lecture 1 > Flashcards

Lecture 1 Flashcards

1
Q

Explain the differences between a phenotype and an endophenotype.

A

A phenotype measures the physical appearance of an organism with respect to a trait, whereas, an endophenotype measures a component along the causal pathways between the distal genome and the disorder.

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2
Q

Cognitive genetics is concerned with…

A

Linking genetic variation to variation in cognitive ability.

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3
Q

Which key terms relate to cognitive variability?

A

Complex traits
Phenotypes
Endophenotypes

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4
Q

Which key terms relate to genetic variability?

A

Genes
Alleles
SNPs
VNTRs

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5
Q

What are complex traits?

A

Quantifiable properties of an organism that are influenced by multiple genetic and environmental factors as well as the interactions between them?

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6
Q

What is a phenotype?

A

The physical appearance of an organism with respect to a trait.

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7
Q

What is an endophenotype?

A

A measurable component that lies along the causal pathway between disease and distal genotype.

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8
Q

What are genes?

A

A length of DNA that specifies a particular protein product.

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9
Q

What is an allele?

A

One of two or more forms of a gene, located on a specific position on a chromosome.

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10
Q

What is a polymorphism?

A

The presence of two or more variants (alleles) in a gene or DNA sequence in a population.

Most common are SNPs.

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11
Q

What are the two types of polymorphisms?

A

Single nucleotide polymorphisms (SNPs)

AND

Variable number of tandem repeats (VNTRs)

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12
Q

What is an SNP?

A

It reflects a change in a single base in the DNA that differs from the usual base at that position.

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13
Q

What is a VNTR?

A

A polymorphism in the length of a tandemly repeated short sequence of DNA.

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14
Q

What are the three common approaches to cognitive genetics?

A

Twin and heritability studies
Candidate gene studies
Genome-wide association studies

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15
Q

If MZ twins are not highly correlated, what is difference due to?

A

Non-shared environmental effects.

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16
Q

If DZ and MZ are both highly correlation, what is the difference due to?

A

The environment.

17
Q

If the ability is highly correlated in MZ twins but not DZ twins, what is the difference due to?

A

Genetics.

18
Q

What is heritability?

A

The proportion of variance explained by genetic factors in a phenotype.

Estimated by comparing concordance rates in MZ and DZ twins.

19
Q

Gene x environment interactions are?

A

The relationship between an environmental experience (e.g. exposure to toxins, trauma, stress) and the emergence of an altered physiological or behavioural response (e.g. immune function, psychopathology) is contigent on individual differences in genetic makeup.

E.g. two people could be exposed to a field of daisies, one would get hayfever because they’re allergic.

20
Q

Candidate gene studies are…

A

Theory driven selection of a specific (candidate) gene.

They investigate how the candidate gene influences individual differences in a specific cognitive process.

21
Q

What are four ways to select candidate genes?

A

Pharmacology
Brain imaging
Behavioural studies
Animal research

22
Q

What is a GWAS?

A

A genome wide association study.

Investigates variation in genes across the entire genome.

How these genes influence individual differences in a specific cognitive process.

23
Q

What is genome wide significance?

A

The statistical term that indicates that a genetic association is real. Due to the large number of SNPs tested, a significance threshold level of 0.05/1 mil (number of SNPs).

It’s 5 x 10^-8 btw…

24
Q

What is the strength of twin studies?

A

Allows estimation of genetic and environmental contribution.

25
Q

What is the weakness of twin studies?

A

Does not tell you WHICH genes are responsible.

26
Q

What are the strengths of candidate gene studies?

A

Allows a specific hypothesis to be tested.

Provides greater power than GWAS as less stats tests conducted.

Inexpensive.

27
Q

What are the weaknesses of candidate gene studies?

A

Not all genes are investigated.

If the theory is incorrect, important genetic effects can be missed.

28
Q

What are the strengths of GWAS?

A

No prior information about the gene is required.

Allows examination of genetic variation across the entire genome.

29
Q

What are the weaknesses of GWAS?

A

Expensive.

Very large sample needed for effects to survive correction for multiple comparisons.

30
Q

How can genetic information help?

A 
Improved diagnosis
Improved treatment (pharmacological and behavioural)
Development of environmental interventions
31
Q

What are the three endophenotypes that lie along the causal pathway for ADHD?

A

Sustained attention
Activation in brain networks that control sustained attention
Pharmacological signaling underlying sustained attention.

PSYC3302 (8 decks)

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