Genetics: Warm Up

• List 3 things you know about genetics

• List 2 things you think you know about
genetics
• 1 thing about genetics you’ve wondered
about
Essential understandings

• Patterns of behavior may be inherited as a means of adapting

to our environment and increasing our chance of survival.
• Behavior is the interaction of genetic inheritance and
environmental factors.
• There are important ethical considerations in the use of genetic
research and testing.
• Technology has furthered our understanding of the role of
genetics on behavior.
What do you think?
https://www.youtube.com/watch?v=jAhjPd4uNFY
Methodology in genetic research
• Things to pay attention to:
• 1 strength for each technique
• 1 limitation for each technique
• Important vocab
• Correlational Studies
• Concordance rate
Family studies in genetics

• One study that shows how family studies (what the IB refers to
as "kinship studies") are used to study the role of inheritance of
behavior was carried out by Weissman et al (2005).
• The study looked at three generations over a 20-year period to
determine the level of inheritance of depression and anxiety
disorders.
• The findings showed that depression in grandparents was a
greater predictor of depression in grandchildren than
depression in parents. 
What do you think?
• https://www.youtube.com/watch?v=JfeGf4Ei7F0

• https://www.youtube.com/watch?v=0-2FFsuitO4
ATL:  Thinking critically

• You see a study on the news with the following headline:  

• Psychologists prove that obesity is genetic!  The concordance rate for
MZ twins was 41% and the rate for DZ twins was 11%.

• Do you think that the headline is justified?  Why or why not?

Ways that researchers study genetics

• Adoption studies: Researchers investigate similarities between the adoptee and

their biological and adoptive parents. Similarity with the biological parent is potentially
the result of genetic inheritance, while similarity with the adoptive parent is more
likely the result of environmental factors.
• Association studies: Attempting to match a candidate gene with a specific behavior
- for example, does the 5-HTT gene correlate with major depression?
• Family studies:  Researchers trace a phenotype over several generations in a family
tree to determine the likelihood that a behavior is inherited.
• Genome-wide Association Studies: an examination of a genome-wide set of
genetic variants in a large sample to see if any variations are associated with a trait.
• Twin studies: Researchers compare behavioral traits of monozygotic (MZ or
identical) twins and dizygotic (DZ or fraternal) twins to evaluate the degree of genetic
and environmental influence on a specific trait.
• Genetics Worksheet
ATL:  Thinking critically

https://www.youtube.com/watch?v=Vx8RxRn6dWU

https://www.youtube.com/watch?v=4osmQ7jWiow Warrior gene

• Christiansen (1977) carried out a study of 3586 sets of Danish twins and found a higher
concordance rate for MZ twins than for DZ twins or siblings. More modern research
indicates that a mutation in the neurotransmitter-metabolizing enzyme monoamine
oxidase A (MAO-A) leads to a syndrome that includes violence and impulsivity in humans.
• If there is a biological marker for criminal behavior, it might be possible to prevent crime
more effectively.  By predicting which children have the potential to be trouble, treatments
could be introduced and the lives and property of others could be protected.
• Based on what you know about genetic inheritance, do you believe that this would be a
good approach to fighting crime?
Genetic Heritability
• Genetic heritability is the quantitative measure of the relative
contribution of genetic factors into a trait or behavior.
• Estimation of genetic heritability is performed in twin studies and is
based on the so-called Falconer model
• 1= A + C + E
The influence of genetics on the environment:
niche-picking
• Genes and environment are not completely independent.
• In many instances genes influence the environment too.
• One form of this dynamic development is niche-picking
Exercise
• What are the relative contributions of nature and nurture in a
person’s IQ?
• Do you think your intellectual abilities are mostly due to the genes
you inherited from your parents, the environment around you or
your own efforts?
Heritability of intelligence: twin studies
• Bouchard and McGue (1981)
IQ correlation between Median correlation
MZ Twins reared together .85
MZ Twins reared apart .67
DZ Twins reared together .58
Siblings reared together .45
Parent and offspring reared together .39
Siblings reared apart .24
Parent and offspring reared apart .22
Adopting parent and offspring .18
Heritability of intelligence: Adoption Studies
• Kendler et al (2015)

• The researchers conducted a rigorous designed adoption study of a sample of

sibling pairs in which one of the siblings was home-reared and the other one
was adopted
• 436 male sibling sets where one of the members was reared by an adoptive
family
ATL skills: Thinking
• We have seen how genetics can influence a trait either directly or
indirectly through niche-picking

• Do you think the environment can influence genetics?

• How?
The influence of environment on genetics:
regulation of gene expression
• Biologically, genotype becomes manifested as phenotype through a
process called gene expression
• The important implication here is that having a gene will not
automatically mean that this gene will be manifested in the
phenotype.
• Regulation of gene expression results in epigenetic changes
Epigenetics:
• Key ideas about epigenetics • Video:
• Identical twins are born with the same • https://www.youtube.com/watch?
genetic code, but this appears to be v=kp1bZEUgqVI
different over time as a result of diet and
stress.  The DNA is exactly the same, but
the way the genes are "expressed" is
different. • Game: Lick your Rats
• These changes can be passed down to the • https://learngendev.azurewebsites
next generation.
.net/content/epigenetics/rats/
• Epigenetic information determines which
genes are expressed.
• This shows that genes are not
"deterministic."
Why is this important?
• Who you are in a combination of your genome and your environment. 
The gene-environment interaction is the modern interpretation of
behavior. The nature vs nurture argument is now outdated.
• The Diathesis-Stress Model of abnormal behavior argues that
psychological disorders are the result genes that are expressed as a result
of environmental stressors.  As we will see later in the course, the most
significant of these stressors are called ACEs - Averse Childhood
Experiences.
• Stress, diet and life habits - such as exercise - affect gene expression.  Gene
expression - your "epigenome" - is inheritable. This will play a role in our
study of obesity.
Genetic arguments for depression
• Genetic researchers argue that genetic predisposition can partly explain depression.
• We know that mood disorders tend to run in families, so one of the ways to investigate this is
twin studies.
• Kendler el al (2006) carried out a twin study of over 42.000 twins from the Swedish national
twin registry to determine the level of heritability of depression. They found that the average
concordance rate for MZ male twins was 31 per cent and for MZ female twins 44 per cent,
while for DZ twins it was 11 and 16 per cent respectively.
• Kendler concluded that heritability of depression is estimated to be 38%. The fact that the
concordance rate for MZ twins is far below 100 per cent indicates that depression may be the
result of a genetic predisposition - also called genetic vulnerability.
• Since twin studies leave a lot of questions unanswered, modern research in genetics focuses
on genetic mapping. Recent research has used DNA markers to try and identify the gene or
genes that are involved in depression.
• The Human Genome Project allowed us to see that there are up to 11 genetic markers - or
variations - that seem to be correlated with Major Depressive Disorder.
Research in psychology: Caspi et al (2003)

• Caspi et al (2003) examined the role of the 5-HTT gene in depression. This gene plays a role in the
serotonin pathways that scientists believe are involved in controlling mood, emotions, aggression, sleep
and anxiety. Caspi hypothesized that people who inherit two short versions of the 5-HTT gene, are more
likely to develop major depression after a stressful life event.

• Caspi and his team looked at a sample of 847 New Zealand 26-year-olds. The study was a prospective,
longitudinal study. All were members of a cohort that had been assessed for mental health on an every-
other-year basis until they were 21. They were divided into three groups based on their 5-HTT alleles:
Group 1 had two short alleles; Group 2 had one short and one long allele; Group 3 had two long alleles.
The mutation of the 5-HTT gene has the shorter alleles.

• People who had inherited one or more short versions of the allele demonstrated more symptoms of
depression and suicidal ideation in response to stressful life events. The effect was strongest for those
with three or more stressful life events. Simply inheriting the gene was not enough to lead to depression,
but the genes interacting with stressful life events increased one's likelihood of developing depression.
Epigenetics: Sexuality
• Look back at Bailey and Pillard
A Debate: The Gay Gene
• Video:
• https://www.youtube.com/watch?
v=k6p1nmOnILA

• Think
• Generalizability
• Reliability of the Theory
• Validity and Credibility
• Bias
• Ethics
Ethical considerations: genetics

• Research in human genetics aims to identify genes involved in human

behavior.
• This kind of research may pose risks to participants because of the link
between genetic inheritance and the potential for how people live their
lives.
• Genetic information obtained from such research can also be problematic
for the participant’s family. If misused, genetic information can
be stigmatizing and may affect people’s ability to get jobs or insurance.
• In any study, participants should always know how their privacy and
confidentiality will be protected, and what will happen to any genetic
material or information obtained as part of the study.
Ethics
• In addition, the aims and procedure of the study must be
explained in plain language and participants must sign an
informed consent
• Confidentiality and privacy can be protected by coding
information (where a code is assigned and only a small
number of researchers have access to the codes) or by
fully anonymizing the sample
• Genetic research can reveal unexpected information that may
result in undue stress or harm to the research participants
Research in psychology: Wilhelm et al (2009)

• Wilhelm et al (2009) carried out a study to determine the effect of genetic testing for the 5-HTT gene which is
believed to play a role in depression.
• In this study, the researchers followed up by asking participants who had received genetic testing to fill out
questionnaires.  When asked about the most important benefits of genetic testing, participants said that it:
allowed for early intervention, provided the potential to prevent the onset of depression and helped people with
the gene variation to avoid stressors that made to the onset of depression.
• When asked to identify the most important limitations of receiving some information, participants said that it could:
lead to insurance discrimination; lead to discrimination from employers; make people with the gene variation feel
more stressed or depressed.
• Regardless of which variation of the 5HTT gene was found, all participants reported more positive feelings than
negative feelings.  However, the participants with two short alleles demonstrated significantly higher distress
levels after learning their result compared with the other participants.
• The study gives us some insight into the ethical considerations of genetic testing.  However, the study has some
limitations.  First, the sample had a mean age of 50 years old.  42% of the participants had suffered from
depression during their lifetime – and those that had not had little chance of starting at such a late age.  In
addition, the sample was highly educated.  The sample is also made up of those that had agreed to have the
testing in the first place.  Obviously, it is not possible to know the effect on those that refused to have the testing.
• Genetics Task Review
Animal research and genetics

• After completing this lesson, you should be able to:

• Evaluate two studies that show how animals are used to study the role
of genetics on behavior
• Explain the limitations of animal research
Key concepts
• Gene-environment interaction
• MAOA
• Selective breeding
• Transgenic mice (knockout mice)
Exam tip

• On your exam, the IB may ask you to discuss the usefulness of animal
models in "the study of the role of genetics in behavior." 
• In order to answer this question, you need to do two things. 
• First, you need to discuss the use of animal models.  This is what we looked at
in the first component of this module. 
• Then, you need to be able to discuss an example.  That example should look
at animal or human research from the unit on genetics.  Regardless of which
study you choose, it is important that there be a clearly identified behavior in
the explanation of the study.
• For the exam, you should be able to discuss one behavior - so, having
one animal and one human study would be enough for this exam
question.
Animal Research in Genetics
• One of the ways that animals are used in genetic research is
through selective breeding experiments. This is when animals
are bred with the goal of producing a specific phenotype. 
• Modern research using selective breeding often
uses transgenic mice – that is, a mouse that has had a single
gene changed or removed.
• These mice are also sometimes referred to as “knockout mice.”
Cases et al 1995
• Cases et al (1995) carried out a study on the genetic origins of aggression.
• For their study, they used a transgenic mouse where the gene that regulates
the production of monoamine oxidase A (MAOA), an enzyme that breaks
down serotonin and norepinephrine, was ‘knocked out” or deleted.
• High levels of serotonin and norepinephrine were found in the offspring of
the transgenic mice. High levels of aggression were found in the male pups.

Does this animal model then help us to understand human behavior?

Caspi et al (2002)
• The researchers carried out a 26-year longitudinal study of 1037 children born in Dunedin, New Zealand. The study
included 442 boys. In their study, they looked at the genotype of the boys – particularly at the gene that controls the
production of the MAOA enzyme – the same enzyme studied by Cases et al (1995).

• The researchers wanted to see not only if the gene had an effect on the level of aggression in the children as they
developed, but also whether environmental stressors may interact with the gene to determine behavior. In other words,
they were interested in the gene-environment interaction that is important to epigenetics.

• By age 11, 36% of the children had been maltreated; this included rejection by the mother, physical and/or sexual abuse.
The results of the study showed that if the abused boy had the version of the MAOA gene that resulted in low levels of
enzyme production, they were more likely to bully others and engage in aggressive and antisocial behavior. As adults, 85
percent of the severely maltreated children who also had the gene for low MAOA activity developed anti-social outcomes,
such as violent criminal behavior. Boys who were abused but did not have this gene, did not show any more aggression
than boys that were not abused.

• It appears that this study confirms the findings in the animal model, thus bringing support to the theory of genetic
influence in aggressive behavior.
Unit revision: Checking for understanding

1.What is one strength and one limitation of using animals in

research in psychology?

2.Explain how a case study could be done with animals.

3.Why do researchers use transgenic mice? What advantage

does that have in the study of behavior?
Potential exam questions

• Discuss the use of animal models in genetic research.

• To what extent does animal research provide insight into human
behavior?
• Discuss ethical considerations in animal research.