lecture 15 - genetic effects on behaviour Flashcards

(25 cards)

1
Q

what we inherit + what we experience = how we behave

A

we inherit - sperm and egg molecules, mitochondria ‘mDNA’, Genomic DNA ‘genes’
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what we experience - throughout life ‘environment’
eg toxins, hormone, diet, stress, infection, injury, drugs, social interaction

individual differences

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2
Q

an additional role for stochastic (‘random’) developmental processes

A

also influences our behaviour as affects body physiology

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3
Q

how do we know that genes influence behaviour?

A

in animals
- selective breeding eg ‘Russian silver fox experiment’ how wild dogs domesticated, tame males bred with tame females then next generation and again and again so tame gene = dominant - side effect morphology changed - cuter eg floppy ears -pliotropy
- black six mice - used in studies - 1930s bred fancy mice - can inbreed mice - overtime become genticllay identical = inbred strays

effects of mutations - mess around with DNA and genes look at mammals and non-mammals

humans
- family studies
- twin studies
- adoption studies
- effects of ‘variants’

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4
Q

family studies

A

‘As relatedness decreases, so does the common genetic complement’
more related more genetic material share
* An unrelated individual shares a small proportion of the original individual’s genetic variants
* However, similar pattern observed for shared environment

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5
Q

twin studies

A
  • Identical (monozygotic) twins share 100% of one another’s genetic material; non-identical (dizygotic, fraternal) twins share, on average, 50% of one another’s genetic material (= siblings)
  • Twins generally raised in identical environments
  • Are twins representative of general population?
    ‘If a behavioural trait is genetically influenced, expect greater similarity between individuals with greater relatedness’

higher Sz risk in twins
similar in IQ and personality traits - higher correlation

twin studies - look at similarity on a characteristic and correlation coefficient is how similar they are to one another

genain quadraplets - all have sz - genetic factors in family

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6
Q

adoption studies

A
  • Adopted children share their genetic material, but not their environment, with their biological parents/siblings
  • They share their environment, but not their genetic material, with their adoptive parents/siblings
    ‘If a trait is genetically influenced, there should be a greater correlation between the trait in adopted children
    and their biological parents and siblings, than between the trait in children and their adoptive family
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7
Q

Powerful studies, but difficult to undertake:

A
  • Information on adoptee and biological families may not be available
  • Ethical issues re approaching biological family about child adopted away
  • Adoption process not random e.g. adopted children placed in non-representative families
  • Adopted children not representative of general population
  • Adopted children subjected to biological mother’s in utero
    environment and early life influences
  • Adoption rare in developed Western countries
    i.e. small sample size
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8
Q

Some ‘adoption study’ evidence for genetic influences on psychological traits and psychiatric illness:
Heston (1966):

A
  • Compared 47 adopted children whose biological mothers had schizophrenia (Group 1), to adopted children whose mothers did not have schizophrenia (Group 2)
  • 17% of Group 1 developed schizophrenia vs. 0% of Group 2
    Danish adoption study (1980-):
  • Identified large number of adults with and without SCZ who had been adopted shortly after birth
  • 13% of biological relatives of adoptees with SCZ had SCZ-like disorders vs. 1% of biological relatives of adoptees without SCZ
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9
Q

An alternative type of study for dissociating between genetic and environmental influences…

A
  • Exploits ‘experiment of nature’: increased use of in vitro fertilisation (IVF) techniques

Type of IVF procedure then Parent related to child

Homologous IVF Both

IVF with sperm donation Mother only

IVF with egg donation Father only

IVF with embryo donation Neither

Rice et al. (2009) PNAS 106(7): 2464-2467

different genetic relationships - look at that and environment and how impacts behaviour

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10
Q

779 IVF-related pregnancies and resultant children closely monitored:

A
  • Maternal smoking
  • Child’s birthweight
  • Child’s psychological profile (e.g. antisocial behaviour)
  • Positive association between variables in pregnancies where mother is genetically unrelated to offspring (IVF with egg or embryo donation) cannot be due to inherited factors from the mother (genetics)

Positive association between variables in pregnancies where mother is genetically related to offspring (homologous IVF, or IVF with sperm donation) suggests influence of heritable factors

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11
Q

Results

A
  • Prenatal exposure to smoking in related/unrelated offspring resulted in lower birthweights

Significant association between maternal smoking and antisocial behaviour in related, but not unrelated group: role for underlying inherited factors

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12
Q

Quantification of genetic effects

A
  • Family, twin and adoption studies allow ‘heritability’ calculation
    ‘the proportion of variance in a trait which is attributable to genetic variation within a defined population in a specific environment’
    ~2x difference in correlation between MZ and DZ twins i.e. Falconer’s formula:
    H2=2(r(MZ)-r(DZ)) - difference in correlation strength between mz twins and dz twins
  • High heritability does not mean that the trait is unaffected by the environment

A trait may have perfect heritability in a population, and still be subject to great changes resulting from environmental variation

Children -Biological parents - Adoptive parents
110 -90 -118
112 -92 -114
114- 94 -110
116 -96 -120
118 -98 -112
120 -100 -116
Mean: 115 -Mean: 95 - Mean:115

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13
Q

images in notes

A

shape of eye influenced strongly by genetics

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14
Q

environment and heritability

A
  • As the environment becomes less variable, trait heritability increases
  • As the environment becomes more variable, trait heritability decreases
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15
Q

heritability of diseases

A

generalised anxiety disorder = 20%

panic disorder = 30%

major depression males = 30%

major depression females = 40%

alcohol dependence = 55%

alzheimers disease = 65%

bipolar disorder = 80%

sz = 80%

autism = 90%

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16
Q

However, gap between heritability estimates and combined, known effects of individual
genes: ‘missing heritability’ (Nature Reviews Genetics 11: 446-450

A

Why?
* Failure to identify all causal genetic variants
* Neglect of sex chromosomes
* Complex interactions between genetic variants (‘epistasis’), and between genetic variants
and the environment
* Over-estimation of heritability from e.g. twin studies

17
Q
A

‘any dispassionate reading of the evidence leads to the inescapable conclusion that genetic factors play a substantial role I’m the origins of individual differences with report to all psychological traits, both normal and abnormal’

18
Q

genes and traits

A
  • How traits are inherited within families can give clues as to the number and type of genetic
    variants involved
  • Behavioural traits and psychiatric illness risk are typically underpinned by ‘many variants of
    small effect’ and ‘few variants of larger effect’ (complex, polygenic), and by interactions with
    the environment
  • Sets of genetic variants may predispose to particular behaviour patterns, but are not
    deterministic
    ‘a gene for criminality…’
    ‘a gene for homosexuality….’
    ‘a gene for intelligence…
19
Q

Challenges with identifying associated genetic factors

A
  • Large numbers of subjects required to detect small effect sizes
  • Difficulty ensuring consistent diagnosis/phenotyping of pooled samples
  • Population stratification
  • Difficulty assigning causality - differences around the world between gender and culture

Controversy e.g. homosexuality

20
Q

Genetic conditions with behavioural features

A

22q11.2 deletion syndrome

Turner syndrome

Down syndrome

Many more including Fragile X syndrome, Huntington’s Disease, X-linked ichthyosis etc

20
Q

Effects of rare variants (‘mutations’)

A

Rare changes in some genes may substantially influence behaviour e.g. MAOA
Brunner syndrome:
* Impulsive aggression
* Arson
* Sexual violence
* Exhibitionism
* Mood and sleep problems
Brunner et al. (1993) Science 262:578-80

diagram in notes

21
Q

Summary

A
  • How we behave is influenced by: a) what we inherit (genes), b) our environment and c)
    ‘stochastic’ (chance) developmental processes in a complex manner
  • Family, twin, adoption and IVF studies can indicate the relative importance and specificity of
    these factors, but are limited in important ways
  • Estimates for heritability can be drawn from these studies, but often these are inconsistent
    with our current genetic knowledge
  • Healthy and pathological behaviour is influenced by the combination of many genetic variants
    (most of small effect) whose expression can be modulated by the environment (‘nature vs.
    nurture’)
  • Current studies are aiming to understand genetic mechanisms contributing towards important
    psychological and psychiatric phenomena e.g. intelligence
22
Q

Practice essay question:

A

‘How do we know that genes influence
behaviour?’

23
Q

“Genetic and Environmental Influences on Human Psychological Differences” by Thomas J. Bouchard and Matt McGue:

A
  1. Introduction
    • The article examines the relative influence of genetics and environment on human psychological traits.
    • It discusses five major domains of individual differences: cognitive abilities, personality, social attitudes, psychological interests, and psychopathology.
    • The authors review behavioral genetic methodologies, particularly twin and adoption studies, to assess heritability.
  2. Key Findings
    A. Heritability of Psychological Traits
    • Virtually all reliably measured psychological traits show moderate to substantial heritability.
    • Cognitive abilities (IQ) are highly heritable (~50%-80%), with genetic influence increasing with age.
    • Personality traits are moderately heritable (~40%-60%) and show a hierarchical structure.
    • Social attitudes and interests also show genetic influence, but environmental factors play a more significant role.
      B. Role of Shared vs. Non-Shared Environment
    • Shared environment (family upbringing) has limited effects on most psychological traits beyond childhood.
    • Non-shared environmental factors (unique individual experiences) are more influential in shaping differences between individuals.
  3. Twin and Adoption Studies
    • Twin studies (comparing identical and fraternal twins) show strong genetic contributions to psychological traits.
    • Adoption studies confirm that adopted children resemble their biological parents more than their adoptive parents in traits like IQ and personality.
    • The heritability of intelligence increases with age, while shared environmental influence declines.
  4. Implications
    • Findings challenge traditional views that family environment is the primary determinant of personality and intelligence.
    • Genetics plays a significant role, but environmental influences still shape individual development.
    • The research suggests a gene-environment interplay, where genetic predispositions influence how individuals react to their environments.
  5. Methodological Considerations
    • The article highlights common misconceptions in interpreting genetic research, such as assuming genetic influence means traits are unchangeable.
    • It also acknowledges criticisms of behavior genetic designs, including concerns about equal environments in twin studies and selection biases in adoption studies.
  6. Conclusion
    • Genetics significantly influences psychological traits, but environment also plays a crucial role.
      Future research should explore gene-environment interactions and the biological basis of cognitive and personality traits.
24
"Heritability in the Genomics Era — Concepts and Misconceptions"
1. Introduction * The article discusses heritability, a key concept in genetics that explains the proportion of variation in traits due to genetic differences. * It highlights misconceptions about heritability and its applications in evolutionary biology, medicine, and agriculture. * The authors emphasize that heritability remains essential in the genomics era, especially with advancements in gene expression, methylation, and metabolomics. 2. Key Concepts of Heritability * Definition: Heritability is the proportion of total variation in a population’s trait that is due to genetic differences. * Types of Heritability: ○ Narrow-sense heritability (h²): Only considers additive genetic variance. ○ Broad-sense heritability (H²): Includes additive, dominance, and epistatic genetic effects. * Heritability is population-specific: It depends on genetic and environmental factors within a given population. 3. Estimation and Challenges * Heritability is estimated by partitioning phenotypic variation into genetic and environmental components. * Twin and family studies are traditional methods for estimating heritability. * Misconceptions include: ○ High heritability does not mean a trait is completely determined by genes. ○ Heritability does not apply to individuals, only populations. ○ Low heritability does not imply the absence of genetic influence. 4. The Role of Heritability in Different Fields * Evolutionary Biology: Heritability predicts how traits evolve through natural selection. * Medicine: Helps in understanding the genetic risk of diseases. * Agriculture & Breeding: Used to select animals and plants for desirable traits. 5. Heritability in the Genomics Era * Advances in genomics allow for direct estimation of genetic effects using DNA markers. * Heritability estimates for gene expression, brain structure, and metabolic traits are emerging. * Genome-wide association studies (GWAS) help in identifying genes responsible for trait variations. 6. Limitations and Future Directions * Heritability estimates vary across populations and environments. * The role of gene-environment interactions remains unclear. * Future research will focus on integrating genetic and environmental influences to better predict trait variation. Conclusion Heritability remains a crucial concept in genetics, with applications across multiple disciplines. The genomics era provides new tools to refine heritability estimates, but challenges remain in fully understanding the genetic and environmental influences on traits.