Genetics and behavior

Behavioral genetics deals with understanding how both genetics and the environment
contribute to individual variations in human behavior. We inherit our genetic material –
that is, DNA – from our parents. However, when psychologists argue that behavior may
be inherited, what exactly does that mean? What is inherited is the genes that give rise
to the development of specific physiological processes that contribute to specific traits
and behavior. It is not probable that a single gene is responsible for such complex
behaviors as intelligence, criminal behavior, altruism, or attachment. Instead, what is
inherited may be the building blocks for such complex behaviors.

Psychologists argue that an individual may have a genetic predisposition towards a

certain behavior; however, without the appropriate environmental stimuli, the gene is
not “turned on” and the behavior is not expressed.

For example, in the study of abnormal behavior, the diathesis-stress model is used to
explain the origin of depression. This model argues that depression may be the result of
the interaction of a “genetic predisposition” and environmental stress. The model
predicts that an individual with certain genes, when exposed to a stressful environment,
is more likely to develop depression than someone who does not have those genes. This
knowledge has been useful in understanding why not all people develop depression
following a traumatic childhood, even if they have a sibling who becomes depressed. It
also illustrates the complexity of the problem and that there is no single
cause-and-effect relationship between genes and behavior.

The Diathesis–Stress Model is a psychological theory that attempts to explain behavior

as a predisposition to genetic vulnerability expressed as a result of stress from life
experiences.
Genetic arguments of behavior are based on the principle of inheritance. Genes and
their DNA are passed down from parents to their offspring, with 50% of our genes being
inherited from each parent. Humans have 23 pairs of chromosomes, with approximately
20.000 – 25.000 genes. We now know this number as a result of the worldwide
research initiative started in 1990 called the Human Genome Project. The goal of this
project was to map and sequence the human genome. This incredible project was
completed in 2004. However, although the mapping of human genes could be an
important step in understanding the complexity of human behavior, as well as
developing treatments for specific disorders, the exact role of specific genes in many
behaviors remains unknown. Although you can undergo genetic testing for some
medical conditions, the same is not entirely true for a disorder like depression.
Methodology in genetic research

Genetic research in humans is to a large extent based on correlational studies. This

means that a researcher establishes that there is a relationship between variables, but
the researcher does not manipulate an independent variable as in an experiment.
Therefore, no cause and effect can be determined. Since the completion of the Human
Genome Project, we have seen a change in how genetic research is carried out.

Twin studies, family studies, and adoption studies

One of the ways to study the possible correlation between genetic inheritance and
behavior is through twin research. Researchers study twins because they share common
genetic material. Prior to the Human Genome Project, it was the primary way that
psychologists investigated the role of genetics in human behavior.

There are two types of twins: monozygotic (MZ) and dizygotic (DZ). Monozygotic twins
are genetically identical because they are formed from one fertilized egg that splits into
two. These twins are of the same sex and look very much alike. Dizygotic means “from
two eggs.” DZ twins will not be any closer genetically than brothers and sisters – on
average, they will have about 50 percent of their genes in common. These twins are not
necessarily of the same sex.

Monozygotic twins: Also called identical twins; they develop from one fertilized egg,
which splits and forms two embryos.

Dizygotic twins: Also called fraternal twins; they develop from two different fertilized
eggs.

Psychologists use these different degrees of genetic relationship as a basis for their
hypotheses about the contribution of genetic and environmental factors to behaviors
such as psychiatric disorders or addictive behavior. It should be the case that the higher
the genetic relationship, the more similar individuals will be if the particular
characteristic being investigated is inherited. In twin research, the correlation found is
called the concordance rate. Twin research is based on a systematic analysis of the
similarity between MZ and DZ twins and based on the assumption that any heritable
trait will be more concordant in identical twins than in non-identical twins, and
concordance rates will be even lower in siblings. When carrying out twin research, if the
concordance rate for MZ twins is significantly higher than for DZ twins or siblings, it is
likely that there is a genetic component to the behavior. If the concordance rate is high
for both MZ and DZ twins it may be assumed that environmental factors play a large
role in the observed behavior.

A concordance rate is the probability that the same trait will be present in
both members of a pair of twins.

It makes sense for psychologists to first carry out twin studies to determine the
concordance rate for a behavior between twins before carrying out more sophisticated
genetic research, which is much more expensive. However, there are limitations to twin
studies. First, twins are very rarely “raised apart,” so they tend to experience a very
similar environment while growing up. Therefore, it is difficult to isolate environmental
influence as a variable. That being said, we have to be careful not to overestimate the
similarity of the environment for both twins. Assuming that twins grow up in an equal
environment is often called the equal environment fallacy. Some research suggests that
parents, teachers, peers, and others may treat identical twins more similarly than
fraternal twins. Finally, twins are not highly representative of the general population, so
it is difficult to generalize the findings.

Another way that behavioral genetics is studied is through family studies (also called
pedigree studies). Unlike twin research, this is a more representative sample of the
general population. A child inherits half its genes from the mother and half from the
father. It follows that ordinary brothers and sisters will share 50 percent of their genes
with each other; grandparents will share 25 percent of their genes with their
grandchildren, and first cousins will have 12.5 percent of their genes in common. In
family studies, these different degrees of genetic relatedness are compared with respect
to specific traits or behavior. The notion is that concordance rates will increase if
heritability is high and vice versa. For example, if the heritability of IQ Intelligence
quotient is high, there should be a stronger correlation in IQ between children and their
mothers than the correlation in IQ between second cousins, and very little, if any,
between strangers.

When a behavior is suspected of being genetic within a family, psychologists use

prospective studies, that is, the sample is selected and observed before certain behaviors
are observed. The researchers watch for outcomes, such as the development of a
disorder. For example, individuals who are considered “genetically vulnerable” to
schizophrenia can be followed over many years to see if they actually develop the
disorder. However, there is an ethical concern that such research may cause undue
stress to those who are labeled as vulnerable.

A final method used in traditional genetic research is adoption studies. In principle,

these allow the most direct comparison of genetic and environmental influences on
behavior. Adopted children generally share none of their genes with their adoptive
parents, but they do share 50 percent of their genes with their biological parents. It
would be reasonable to suppose, therefore, that if the heritability of a behavior is high
and the environment has little part to play, then the behavior of adopted children should
correlate more strongly with the behavior of their biological parents than their adoptive
parents. If, on the other hand, the environment has the strongest role to play, the
reverse pattern should be found.

Adoption studies are often criticized as these children are not representative of the
general population. In addition, adoption agencies tend to use selective placement when
finding homes for children, trying to place children with families who are similar in as
many ways as possible to the natural parents. Consequently, the effects of genetic
inheritance may be difficult to separate from the influences of the environment.
Overall, these approaches to the study of the relative influence of genetic makeup and
the environment allow researchers to determine if there is a potential genetic origin of
behavior. In spite of the weaknesses outlined here, it is clear that there is a correlation
between several behaviors and genetic inheritance.
Kinship studies

Historically, kinship studies - also known as family or pedigree studies - were a first step
in determining whether a behavior or psychological disorder "runs in families." When
the risk of developing a disorder increases within a family, this indicates a potential
genetic root of the behavior.

Although kinship studies are not used as frequently today, they have been useful in
genetic research. Today, kinship studies are more frequently part of larger linkage or
association studies.

Kinship studies have several basic characteristics:

● They measure the frequency of a behavior across generations.

● They measure the frequency of a behavior within a generation.
● They are often longitudinal.
● They use case-control studies. Case-control studies are retrospective. They clearly
define two groups at the start: one with the behavior/disorder and one without
the behavior/disorder. They look back to assess whether there is a statistically
significant difference in the rates of exposure to a defined risk factor between the
groups - in this case, to potential genetic inheritance.

One kinship study took place in the 1960s in Colorado Springs. Don Galvin was a
respected member of the Air Force and the father of twelve children - 10 boys and two
daughters. Six of his sons would develop schizophrenia.

The story of the Galvin family is told in Hidden Valley Road by Robert Kolker. Although
a tragedy for the family, Lynn DeLisi was able to study the family and eventually was
part of a team that used this data to determine a genetic link to schizophrenia.
Siddhartha Mukherjee, author of The Gene: An Intimate History, tells the story of his
father's brother Jagu who suffered from schizophrenia, and Mukherjee's cousin, Moni,
who would also go on to develop the disorder. As Jagu had lived through the partition of
India and Pakistan, the family believed that his illness was the result of the tragedy and
loss that he had experienced. However, Moni was the next generation and had not
experienced this level of trauma. This indicated that there must have been some other
reason why these men developed schizophrenia.

The two stories above are a bit different. The case of the Galvin family was studied by
DeLisi and her team. They collected empirical data, including blood samples that
were eventually used for DNA testing. Mukherjee's story, however, is anecdotal data.
Anecdotal data also has value in that it indicates that there is "something here to study."
However, it is not as reliable as empirical data.

Evaluating kinship studies

Kinship studies limit the overall genetic variability of the sample which increases the
statistical power of any ge discovery.

Kinship studies are more controlled than studies of unrelated people. They have all lived
in the same home, shared a common diet, and often have the same level of physical
activity.

It is often difficult to obtain reliable data that goes back more than one generation.
Kinship studies are often reliant on anecdotal data with regard to the behavior of
grandparents or great-grandparents. This data may be open to memory distortion.
More importantly, it is only recently that a diagnosis of psychological disorders is
obtained. In many cases of past generations, there are assumptions made about
potential diagnoses - but no clinical data that can be used.
Depression: Weissman et al (2005)

Weissman et al (2005) carried out a longitudinal kinship study with a sample of 161
grandchildren and their parents and grandparents to study the potential genetic nature
of Major Depressive Disorder. The study took place over a twenty-year period, looking
at families at high and low risk for depression. The original sample of depressed patients
(now, the grandparents) was selected from an outpatient clinic with a specialization in
the treatment of mood disorders. The non-depressed participants were selected from
the same local community. The original sample of parents and children were
interviewed four times during this period. The children are now adults and have
children of their own - allowing for the study of the third generation.

Data was collected from clinicians, blind to past diagnoses of depression or to data
collected in previous interviews. Children were evaluated by two experienced clinicians -
a child psychiatrist and a psychologist.

The researchers found high rates of psychiatric disorders in the grandchildren with two
generations of major depression. By 12 years old, 59.2% of the grandchildren were
already showing signs of a psychiatric disorder - most commonly anxiety disorders.
Children had an increased risk of any disorder if depression was observed in both the
grandparents and the parents, compared to children where parents were not depressed.
In addition, the severity of a parent's depression was correlated with an increased rate of
mood disorders in the children.

On the other hand, if a parent was depressed but there was no history of depression in
the grandparents, there was no significant effect of parental depression on the
grandchildren.

OCD: Nestadt et al (2000)

This study had a sample of 80 people living with OCD that were chosen from five
different OCD clinics - and 73 control cases chosen by random-digit dialing within the
same communities. With their first-degree relatives (parents and siblings), the sample
was 343 diagnosed participants and 300 control participants.

First-degree relatives were evaluated by psychiatrists using semi-structured interviews.

All interviews were done blindly to control for researcher biases.

The researchers found that the lifetime prevalence of OCD was significantly higher in
diagnosed participants compared with control relatives (11.7% vs 2.7%). Case relatives
had higher rates of both obsessions and compulsions; however, this finding is more
robust for obsessions.

Eating disorders: Lilienfield et al (1998)

Lilienfield et al (1998) carried out a case-control study to determine if there is a

potential genetic link to eating disorders. The sample was made up of women living with
anorexia nervosa (n = 26) or bulimia nervosa (n = 47) and a control group (n = 44).
First-degree female relatives were also interviewed (n = 460).

All interviews of the AN, BN, and control group were conducted face to face. 85% of the
AN group had restored their weight at the time of the interview. Whenever possible,
first-degree relatives were interviewed in person; otherwise, they were interviewed by
telephone. The mean number of relatives per group was 3.4 for AN, 3.5 for BN, and 4.3
for the control group. Information was obtained on unavailable female relatives through
family history interviews with all interviewed family members serving as informants.

Researchers carried out structured interviews. One of the interview schedules was the
Eating Disorders Family History Interview to determine eating disorders and disordered
eating behaviors. They also used the Family History Research Diagnostic Criteria, in
order to determine the lifetime prevalence of depression, OCD, and other mental health
concerns.
Relatives of anorexic and bulimic probands had an increased risk of disordered eating
behaviors, but not a diagnosis of AN or BN. The risk of obsessive-compulsive
personality disorder was higher only among relatives of anorexic probands. The
prevalence of major depressive disorder and obsessive-compulsive disorder was
independent of that of anorexia nervosa and bulimia nervosa - that is, there was no
significant difference in the prevalence of these disorders between the eating disorder
probands and the control group.
Epigenetics and depression

Modern biologists do not simply argue that a gene “causes” a behavior; instead, they
recognize what is known as the gene-environment interaction. This is part of a field of
study known as epigenetics. Epigenetics argues that in order for a behavior to occur,
genes must be “expressed.” Genetic expression is a complex chemical reaction to
environmental or physiological changes that allow a gene to “do its job.”

We do not need to understand the exact process of gene expression for IB psychology,
but it is important to know that environmental factors such as stress, exercise, or diet,
may result in genetic expression, or the lack of genetic expression. This also means that
an individual may have a gene that could lead to a behavior, but if the gene is never
expressed, then this behavior will not occur.

When looking at twin research, when studying behavior, the concordance rate of MZ
twins is never 100%. What is the reason for that? When we look at twin studies, we have
to remember that genes need to be expressed. So, MZ twins have the same genes, but
they may not have been exposed to the same environmental stressors, and thus the same
genes may not be expressed. The fact that concordance rates are higher for MZ than DZ
twins also makes sense. Twins do share some genes, so it is possible that DZ twins both
share genes related to a behavior like depression. But not all DZ twins would. In
addition, in the DZ twins that do share those genes, some would not be expressed. This
accounts for the significantly lower rate of concordance among DZ twins.

Genetic arguments for depression

Depression – officially known as Major Depressive Disorder - is considered the

common cold of mental health. In the abnormal option, you may study this disorder in
depth. Here, we are using it as an example of how genetic research is applied to
understand human behavior.

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 through twin studies. Kendler et al (2006) carried out a twin study of 15,493 complete
twin pairs 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
percent and for MZ female twins 44 percent, while for DZ twins it was 11 and 16 percent
respectively. Overall, Kendler concluded that the heritability of depression is estimated
to be 38%. The fact that the concordance rate for MZ twins is far below 100 percent
indicates that depression may be the result of a genetic predisposition - also called
genetic vulnerability. The fact that the concordance rate for MZ twins is below 100 %
does not contradict the argument that depression is genetically inherited. It may mean
that the gene is there, but both twins have not experienced the same level of stress and
thus both twins have not "expressed their genes." The fact that some of the DZ twins
also both had depression is also explained by the fact that they do share some of the
same genes.

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 shorter alleles.

The participants were asked to fill in a "Stressful life events" questionnaire which asked
them about the frequency of 14 different events - including financial, employment,
health, and relationship stressors - between the ages of 21 and 26. They were also
assessed for depression.

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.

Evaluating Caspi et al (2003)

The study is correlational, so no cause-and-effect relationship can be determined.

The study makes an assumption that serotonin causes depression.

Information about life events was self-reported. It may be the salience of the negative
life events that plays a role in depression - that is, those that recalled them more easily
may have a tendency toward depression. Those who are more resilient, may not recall
negative life events as easily.

The theory acknowledges the interaction between both biological and environmental
factors in depression. This is a more holistic approach, not reductionist.

There were some participants who did not carry the gene mutation who became
depressed; therefore, we cannot say that gene expression alone can cause depression.

There are several strengths to genetic arguments for depression. First, twin studies have
been shown to be highly reliable in their results. In addition, modern research has
allowed us to locate genetic variations using very large sample sizes. Finally, modern
research is not reductionist; it recognizes the interaction of environmental and
biological factors in depression.

However, there are several limitations. Firstly, genetic arguments are correlational –
they do not – and cannot – establish a cause-and-effect relationship. Secondly, as
mentioned earlier, twin studies have a problem with population validity. The samples
are not representative of the general population – and they tend to be small.

Population validity is a type of external validity that describes how well the sample can
be generalized to a population.

In addition, it is impossible to isolate variables and separate out the role of

environmental factors. Finally, although genetic markers have been identified, it is not
clear how these genetic markers interact to produce the behaviors associated with
depression.