CYTOGENETICS

MULTIFACTORIAL TRAITS & BEHAVIOR

MODULE 6
GENES AND THE ENVIRONMENT

Earlier lessons have emphasized traits in which differences in phenotype result from alternative
genotypes of a single gene. Examples include green versus yellow peas and the ABO blood groups. These
traits are particularly suited for genetic analysis through the study of pedigrees because of the small number
of genotypes and phenotypes and because of the simple correspondence between genotype and phenotype.

However, many traits of importance in plant breeding, animal breeding, and medical genetics are
influenced by multiple genes. These are known as multifactorial traits because of the multiple genetic and
environmental factors implicated in their causation.

 Multifactorial inheritance means that many factors are involved in causing certain health problems or
disorders. A combination of genes from both parents plus unknown environmental factors make the
trait or condition.
 Multifactorial traits do happen in families, since they are partly caused by genes & shared
environmental factors.
 But they might now follow recognizable patterns.
 To put it simply, multifactorial traits follow Mendel’s laws, but expression of any one gene is more
difficult to predict because of the combined actions of genes and the environment.
 The chance of a multifactorial trait or condition happening to a person depends on how closely the
family member with the trait is related to the person involved.
o For example, the risk is higher if your parent or sibling has the trait or disease than if your first
cousin has the trait or disease.
o This group of disorders includes a broad range of medical (cardiac disease and diabetes),
congenital (birth defects including cardiac malformations, neural tube defects, and cleft lip and/or
palate), and neuropsychiatric (ASD, schizophrenia, bipolar disorder) diseases.
o Many neuropsychiatric diseases and birth defects demonstrate complex multifactorial inheritance.

Figure 6.1 Genes and the Environment Mold Traits

 A trait can either be single-gene (or Mendelian or monogenic) or polygenic.

 Both Mendelian and polygenic traits can be multifactorial, meaning they are influenced by the
environment.
 POLYGENIC TRAIT – is defined as a trait that reflects the activities of more than one gene.
o Pure polygenic traits – those not influenced by the environment – are very rare.
o Polygenic multifactorial traits include common ones like: height, skin color, body weight, many
illnesses, behavioral conditions & tendencies.
 Polygenic multifactorial conditions reflect additive contributions of several genes where each gene
confers a degree of susceptibility, but the input of these genes is not necessarily equal. Here are some
examples:
 o Type II Diabetes Mellitus – where 3 genes contribute to the risk of developing this disease but
other genes may exert smaller effects.
o Migraine – where studies show that a gene on chromosome 1 contributes sensitivity to sound; a
gene on chromosome 5 produces the pulsating headache and sensitivity to light; a gene on
chromosome 8 is associated with nausea and vomiting.

VARIATION OF POLYGENIC TRAITS

The combined action of many genes for a polygenic trait often produces a “shade of grey” or
“continuously varying” phenotype which is called as quantitative trait. DNA sequences that contribute to
polygenic traits are called quantitative trait loci (QTLs).

 A multifactorial trait is continuously varying if it is also polygenic.

 The individual genes that confer a polygenic trait follow Mendel’s laws, but together they do not
produce single gene phenotypic ratios.
 They all contribute to the phenotype, but without being dominant or recessive to each other.
 Single-gene traits are instead discrete or qualitative, often providing an “all-or-none” phenotype such
as “normal” versus “affected”.

Although the expression of a polygenic trait is continuous, we can categorize individuals into classes,
calculate the frequencies of the classes, plot the frequency for each phenotype class to yield a bell-shaped
curve result. Even when different numbers of genes affect the trait, the curve takes the same shape.

FINGERPRINT PATTERNS

 the skin on the fingertips is folded into patterns of raised skin called dermal ridges that align to form
loops, whorls and arches (See Figure 6.2). This pattern is a fingerprint. Dermatoglyphics or skin writing
compares the number of ridges that comprise these patterns to identify and distinguish individuals (See
Figure 6.3).
 This technique is part of genetics because certain disorders such as Down syndrome include unusual
ridge patterns. Forensic fingerprint analysis is also an application of dermatoglyphics. To quantify, a
total ridge count is done which are then plotted on a bar graph revealing an approximate bell-shaped
curve of a continuously varying trait.

Figure 6.2 Different Fingerprint Patterns

 Figure 6.3 Dermatoglyphics

HEIGHT

 the effect of the environment on height is obvious – people who do not eat enough do not reach their
genetic potential for height.
 Studies have also shown that people raised from different decades (See Figure 6.4) have varying
height ranges and this difference can be attributed to improved diet and better overall health.
 Genome-wide association studies have identified dozens of genes that affect height by comparing
genetic markers.

Figure 6.4 Height difference of students born from 1920 (top) and 1997 (bottom)

Figure 6.5 A three-gene model for human skin color

SKIN COLOR

 Melanin is the pigment responsible for giving color to the skin to different degrees in different
individuals.
 Scientists have detected more than 100 genes that affect pigmentation in skin, hair and irises.
 Melanin protects against DNA damage from ultraviolet radiation, and exposure to the sun increases
melanin synthesis.
  Although people come in different shades (See Figure 6.5), we all have about the same number of
melanocytes per unit area of skin but differ in melanosome number, size and density of distribution.
 Differences in skin color arise from the number and distribution of melanin pieces in the skin cells in
the uppermost layers.
 Several studies showed that drugs for hypertension and heart disease are specifically marketed to
African Americans, who have a higher incidence of these conditions than other groups. Figure 6.6
illustrates a list of drugs that seem to be more effective among either Americans of European descent
or Americans of African descent. The difference in response is associated with inheriting particular gene
variants or SNPs.

Figure 6.6 Drugs that are effective for certain race groups

INVESTIGATING MULTIFACTORIAL TRAITS

EMPIRIC RISK

 a traditional approach which is based on incidence in a specific population.

 Geneticists use this approach to predict the chance that a polygenic multifactorial trait will occur in a
particular individual.
 Empiric risk is not a calculation, but a population statistic based on observation.

Incidence is the rate at which a certain event occurs, such as the number of new cases of a particular
disorder diagnosed per year in a population of known size.

Prevalence is the proportion or number of individuals in a population who have a particular disorder at
a specific time, such as during one year.

Empiric risk increases with the severity of the disorder, the # of affected family members, and how
closely related a person is to the affected individuals. If a trait has an inherited component, then it makes
sense that the closer the relationship between two individuals, one of whom has the trait, the greater the
probability that the second individual has the trait, too, because they have more genes in common (See Figure
6.7).

Figure 6.7 Empiric risk of recurrence for cleft lip

 Since empiric risk is based solely on observation, this approach can be used to derive disorders with
vague transmission patterns. An example is Pyloric stenosis, an overgrowth of muscle between the stomach
and small intestine, which must be surgically corrected shortly after birth, or the newborn will be unable to
digest foods.

HERITABILITY

 is an approach which estimates the proportion of the phenotypic variation for a particular trait that is
due to genetic differences in a certain population at a certain time.
 If empiric risk could result from nongenetic influences, then heritability focuses on the genetic
component of the variation in a trait.

Figure 6.8 Heritability in a multifactorial polygenic trait

Figure 6.8 outlines how heritability estimates the genetic contribution to the variability of a trait.
Variability of most traits, however, reflects a combination of differences among genes and the environment.
Heritability changes as the environment changes. Figure 6.9 lists some human traits and their heritabilities.

For example:

(1) the heritability of skin color would be higher in the winter months, when sun exposure is less likely to
increase melanin synthesis.
(2) populations near equatorial Africa have darker skin than sun-deprived Scandinavians.

Figure 6.9 Heritabilities for some human traits

Figure 6.10 Coefficient of Relatedness for pairs of relatives

 One way to estimate heritability is to compare the actual proportion of pairs of people related in a
certain manner who share a particular trait, to the expected proportion of pairs that would share it if were
inherited in a Mendelian fashion. The expected proportion is derived by knowing the blood relationships of the
individuals and using coefficient of relatedness, which is the proportion of genes that two people related in a
certain way share (Figure 6.10).

Genetic variance for a polygenic trait is mostly due to the additive effects of recessive alleles of
different genes. For some traits, a few dominant alleles can greatly influence the phenotype, but because they
are rare, they do not contribute greatly to heritability. Epistasis can also influence heritability.

Studying multifactorial traits in humans is difficult, because information must be obtained from many
families. Two special types of people, however, can help geneticists to tease apart the genetic and
environmental components of the variability of multifactorial traits – adopted individuals and twins.

TWINS

 the genomes of identical twins are not really identical – they differ in DNA sequences called copy
number variants (CNVs) which are repeats of short sequences. People differ in the numbers of repeats.
 A trait that occurs more frequently in both members of identical (monozygotic or MZ) twin pairs than in
both members of fraternal (dizygotic or DZ) twin pairs is at least partly controlled by heredity.

Geneticists calculate the concordance of a trait as the percentage of pairs in which both twins express
the trait among pairs of twins in whom at least one has the trait. Twins who differ in a trait are said to be
discordant for it. Figure 6.11 compares twin types for a variety of hard-to-measure traits.

Figure 6.11 Concordance values for some traits in twins

GENOME-WIDE ASSOCIATION STUDIES

Figure 6.12 Genome-wide association studies

  Genome-Wide Association Studies is any study of genetic variation across the entire human genome
(See Figure 6.12) that is designed to identify the genetic associations with observable traits, or the
presence or absence of a disease or condition, as according to the National Institutes of Health (NIH).
 Genome-wide association studies seek DNA sequence variants that are shared with much greater
frequency among individuals with the same illness or trait than among others.
 Several different study designs are used in these investigations and they include the following:

COHORT STUDY

 a study conducted by researchers where they follow a large group of individuals over time and
measure many aspects of their health.
 The most famous of which is the Framingham Heart Study, which began tracking thousands of people
and their descendants in Massachusetts in 1968.

CASE-CONTROL STUDY

 a study wherein each individual in one group is matched to an individual in another group who shares
as many characteristics as possible, such as age, sex, activity level, and environmental exposures.
 SNP differences are then associated with the presence or absence of the disorder.

HOMOZYGOSITY MAPPING

 is a variation on the affected sibling pair strategy which is performed in families that are
consanguineous.
 The genomes of these children have more homozygous regions than do other children, thus having a
greater likelihood that they will inherit two copies of a susceptibility or disease-causing mutation.
 Homozygosity mapping was used to identify genes that cause autism.

LIMITATIONS OF GENOME-WIDE ASSOCIATION STUDIES:

 Prone to error because they include so many data points.

 They reveal associations between two types of information, and not causes.
o An association only means that one event or characteristic occurs when another occurs.
o A correlation is a directional association where if one measurement increases, so does the other.
 How the patient population is selected can introduce bias to the study.
 Individuals in the control population might not actually be healthy or might have problems other than
the one being investigated.
 Genetic heterogeneity, in which different genes cause the same trait or condition, could also be a
source of error.
 They miss extremely rare SNPs or the people who share symptoms and a SNP pattern may share
something else that accounts for the association such as environmental exposure.

GENES AND BODY WEIGHT

Unlike rare genetic disorders, body weight is a multifactorial trait that we all have. Surprisingly, many
genes affect body weight. Scientists use body mass index (BMI) which is weight in proportion to height as a
tool for measurement. Heritability for BMI is 0.55, which leaves room for environmental influences on our
appetites and sizes. Some genes implicated in determining body weight have been known through genome-
wide association studies.

LEPTIN

 Is a protein hormone found in mice and humans which stimulates cells in hypothalamus to decrease
appetite and metabolize nutrients.
  Several studies were done wherein obese people were given leptin, assuming they had a leptin
deficiency, to trick them into feeling full.
 Only a small % of the participants lost weight but the majority did not because they had leptin
resistance.

GHRELIN

 is a peptide hormone produced in the stomach that responds to hunger, signaling the hypothalamus to
produce more of the appetite accelerator.
 A drug has already been developed to block the effects of this hormone.
 While leptin acts long term to maintain weight, the stomach’s appetite control hormonal function short
term.
 All of these hormonal signals are integrated to finely control appetite in a way that maintains weight.
 Figure 6.13 shows some hormones that control weight may reveal points for drug intervention.

Figure 6.13 Some sites of genetic control on body weight

ENVIRONMENTAL INFLUENCES ON WEIGHT

 Many studies on adopted individuals and twins suggest that obesity has a heritability of 75%.
 Since the heritability for BMI is lower than this, the discrepancy suggests that genes play a larger role
in those who tend to gain weight easily.
 Populations that suddenly become sedentary and switch to a fatty, high-calorie diet reveal effects of
the environment on body weight.

GENES AND BEHAVIOR

 Genes contribute to how we respond to environmental stimuli and therefore affect behavior, which
includes mood, emotion, intelligence, and personality.
 Candidate genes for behavioral traits and disorders affect neurotransmission and signal transduction.
 Analyzing behaviors is difficult because symptoms of different syndromes overlap, study participants
can provide biased information, and behaviors can be imitated.
 Genetic subtypes of behavioral disorders may alter standard psychiatric diagnoses.

EATING DISORDERS

 Eating disorders affect both sexes and are prevalent in the whole world. Twin studies indicate high
heritability.
 Candidate genes for eating disorders include protein products that control appetite & the
neurotransmitters dopamine & serotonin.
SLEEP

 Twin studies and single-gene disorders that affect the sleep-wake cycle reveal a large inherited
component to sleep behavior.
 A single gene causes narcolepsy both in dogs and humans.
 A large family with familial advanced sleep phase syndrome enabled researchers to identify the first
“clock” gene in humans.
 The period gene enables a person to respond to day & night environmental cues.

INTELLIGENCE

 Intelligence is difficult to define and measure.

 The general intelligence (g) value measures the inherited portion of IQ that may underlie population
variance in IQ test performance.
 Heritability for intelligence increases with age, suggesting that environmental factors are more
important early in life.
 Individual genes affect intelligence.
 Many chromosomal disorders affect intelligence, suggesting high heritability.

DRUG ADDICTION

 Drug addiction arises from tolerance and dependence.

 Addiction produces stable changes in certain parts of the brain.
 Structures in the limbic system are directly involved in drug addiction.
 Proteins involved in drug addiction affect neurotransmission and signal transduction.
 Candidate genes for drug addiction include dopamine D(2) receptor & variants in nicotinic receptor
parts.
 Nicotine binds to a receptor that normally binds acetylcholine, causing dopamine release & pleasure.

MOOD DISORDERS

 Major depressive disorders are relatively common and associated with deficits of serotonin and
norepinephrine, or both.
 Bipolar disorder is depressive periods and periods of mania or hypomania. Hundreds of genes may
raise the risk of developing this disorder.
 Different families have different combinations of these gene variants, some of which, under certain
environmental conditions, can lead to the disorder.
 Bipolar disorder is associated with several chromosomal sites, and its genetic roots are difficult to
isolate.

SCHIZOPHRENIA

 Schizophrenia greatly disrupts the ability to think and perceive the world, causing delusions and
hallucinations.
 Onset is typically in early adulthood, and the course is episodic or steady.
 Empiric risk estimates and heritability indicate a large genetic component.
 Moreover, studies have implicated several candidate genes and chromosomal regions as possible
causes.
 A possible environmental influence may be prenatal exposure to the maternal immune system’s
response to influenza.

AUTISM

 Autism is a loss of language, communication, and social skills beginning in early childhood.
 Seizures and mental retardation may occur.
  Neuroligins and neurexins are types of proteins embedded in the cell membranes of certain brain
neurons that join across synapses, permitting neural connections to form in response to environmental
stimuli.
 These proteins are abnormal in some cases of autism which may explain how the condition arises from
failure of synapses to form that enable a child to integrate experiences.

PPT
FOUR PATTERNS OF INHERITANCE
1. Autosomal dominant
2. Autosomal recessive
3. Sex-linked (X-Linked)
4. Multifactorial
MULTIFACTORIAL TRAITS AND BEHAVIOR
 Also known as “complex” or “polygenic inheritance”
 Known as multifactorial traits; multiple genetic and environmental factors implicated in their
causation
 Multifactorial inheritance means that many factors are involved in causing certain health problems
or disorders.
Friendly tip:
 Multifactorial: having or stemming from a number of different causes or influences some medical
researchers regard cancer as a multifactorial disease.
Multifactorial traits follow Mendel’s laws, but expression of any one gene is more difficult to predict because of
the combined actions of genes and the environment.
The chance of a multifactorial trait or condition happening to a person depends on how closely the family
member with the trait is related to the person involved.
Friendly tip:
 You are likely more to inherit a disease coming from your parent or sibling than your cousin or aunt.
A trait can either be single-gene (or Mendelian or monogenic) or polygenic
Both Mendelian and polygenic traits can be multifactorial, meaning they are influenced by the environment.

Multifactorial Inherited disorders are distinct from mendelian conditions and sex-linked:
1. The disorder can occur in isolation- an unaffected person can have an affected child
2. Familial inheritance is common but no clear mendelian pattern
3. Often occur more frequently in one gender over another.
Some other characteristics include:
1. Increased occurrence in ethnic groups
2. Variance in heritability (sometimes) people who inherit the faulty gene do not display the phenotype)
3. Association with possible trigger factors (Lung cancer, Asbestos)
Polygenic Traits
 Reflects the activities of more than one gene.
 Pure polygenic traits- those not influenced by the environment- are very rare.
Friendly tips:
 Even when different numbers of genes affect the trait, the polygenic traits take the distinctive bell-
shaped curve
 Traits that display a continuous distribution such as height or skin color are polygenic
HALLMARKS OF MUTIFACTORIAL INHERITANCE
1. Inherited genetic mutations: present at birth
2. External factors: environmental, physical, chemical
3. Tendency to run in the families: especially if person has an affected first degree relative
VARIATION OF POLYGENIC TRAITS
FINGERPRINT PATTERNS
 The combined action of many genes for a polygenic trait often produces a “shade of grey” or
“continuously varying” phenotype (quantitative trait)
 DNA sequences that contribute to polygenic traits are called quantitative trait loci (QTLs)
 The skin on the fingertips is folded into patterns of raised skin called dermal ridges that align to form
loops, whorls and arches. This pattern is a fingerprint
 Dermatoglyphics or skin writing compares the number of ridges that comprise these patterns to
identify and distinguish individuals
 This technique is part of genetics because certain disorders such as down syndrome include unusual
ridge patterns
Friendly Tip:
 No fingerprints are the same, not even TWINS!
 Your fingerprints also stay the same from the time you are born until death.

Friendly Tip:
 Researchers show that 95% accuracy to reveal a child’s inborn potential (strength and weakness)
 Also used to scan and determine if the child has down syndrome

Height
 The effect of the environment on height Is obvious- people who do not eat enough do not reach their
genetic potential for height
 Studies have also shown that people raised from different decades have varying height ranges and this
difference can be attributed to improved diet and overall health
Skin Color
 Although people come in different shades, we all have about the same number of melanocytes per unit
area of skin but differ in melanosome number, size an density of distribution
 Differences in skin color arise from the number and distribution of melanin pieces in the skin cells in
the uppermost layers.
 Several studies showed that drugs for hypertension and heart disease are specifically marketed to
African Americans, who have a higher incidence of these conditions than other groups
 The difference in response is associated with inheriting particular gene variants or SNPs (single
nucleotide polymorphism)
Friendly Tip:
 Melanin is the pigment responsible for giving color to the skin to different degrees in different
individuals.

Friendly Tip:
 If you are malnourished, exhausted or dehydrated, you may experience color changes in skin
More Effective In:
Drug class/ Name Disorder EA AA
ACE inhibitor/ Enalapril Hypertension 
Antipsychotic/ Clozapine Psychosis 
Antiviral/ Alpha interferon Hepatitis 
Beta blocker/ Propranolol Hypertension 
Calcium channel blocket/ Diltiazem Hypertension 
Insulin Diabetes mellitus 
Thiazide diuretic Hypertension 
Vasodilator combination/ BiDil Congestive heart failure 
Friendly Tip:
 Any stimulant drugs such as cocaine, crack cocaine and Ritalin and opiate drugs like heroin and pain
pills can all lead to nutritional issues
HOW DO WE ANALYZE MULTIFACTORIAL RISKS?
EMPIRIC RISK
 The chance that a disease will occur in a family, based on experience with the diagnosis, past history
and medical records rather than theory
 A traditional approach which is based on incidence in a specific population
 Geneticists use this approach to predict the chance that a polygenic multifactorial trait will occur in a
particular individual.
 Not a calculation, but a population statistic based on observation
INCIDENCE
 The number of individuals who develop a specific disease or experience a specific health- related event
during a particular time period (such as a month or year)
 Is the rate at which a certain event occurs, such as the number of new cases of a particular disorder
diagnosed per year in a population of known size.
PREVALENCE
 Is the proportion or number of individuals in a population who have a particular disorder at a specific
time, such as during one year
 For example, the prevalence of type 2 diabetes among children age 2 to 12 equals the number of
children age 2 to 12 years with type 2 diabetes divided by the total number of children within the
age range.
Friendly Tip:
 Incidence should not be confused with prevalence, which is the proportion of cases in the population at
a given time rather than rate of occurrence of new cases. Thus, incidence conveys information about
the risk of contracting the disease, whereas prevalence indicates how widespread the disease is.
HERITABILITY
 An approach which estimates the proportion of the phenotypic variation for a particular trait that is due
to genetic differences in a certain population at a certain time
 If empiric risk could result from non-genetic influences, then heritability focuses on the genetic
component of the variation in a trait.
 For example: (1) the heritability of skin color would be higher in the winter months, when sun
exposure is less likely to increase melanin synthesis. (2) populations near equatorial Africa have
darker skin than sun-deprived Scandinavians.
COEFFICIENT OF RELATEDNESS

TWINS
 The genomes of identical twins are not really identical- they differ in DNA sequences called copy
number variants (CNVs) which are repeats of short sequences. People differ in the numbers of repeats.

Friendly Tip:
 Twins can be the same or different sexes and are no more alike than any brother or sister, despite
being born together (Sesquizygotic/ Semi-Identical Twins)

Friendly Tip:
 Fraternal twins develop when two separate egg cells get fertilized by two separate sperm cells;
Paternal twins develop when one sperm fertilizes one egg.
CONCORDANCE
TRAIT MZ (Identical) twins DZ (fraternal) twins
Acne 14% 14%
Alzheimer disease 78% 39%
Anorexia nervosa 55% 7%
Autism 90% 4.5%
Bipolar disorder 33-80% 0-8%
Cleft lip with or without cleft palate 40% 3-6%
Hypertension 62% 4.8%
Schizophrenia 40-50% 10%
GENOME-WIDE ASSOCIATION STUDIES
 Any study of genetic variation across the entire human genome that is designed to identify the genetic
associations with observable traits, or the presence or absence of a disease or condition, as according
to the National Institutes of Health (NIH).
Can be categorized:
 Cohort study
 Case-control study
 Homozygosity mapping
Friendly Tip:
 Homozygosity mapping was used to identify genes that cause autism.
COHORT STUDY
 A particular form of longitudinal study that samples a cohort, performing a cross-section at intervals
through time. It is a type of panel study where the individuals in the panel share a common
characteristic.

CASE- CONTROL STUDY

 A type of observational study in which two existing groups differing in outcome are identified and
compared on the basis of some supposed causal attribute.
 Observational because no intervention is attempted and no attempt is made to alter the course of the
disease.
HOMOZYGOSITY MAPPING
 A gene-mapping strategy that is commonly used to locate identical chromosomal regions in
homologous chromosomes that are shared by patients in consanguineous families affected by
autosomal recessive disease
How do you find homozygosity?
 To identify whether an organism exhibiting a dominant trait is homozygous or heterozygous for a
specific allele, a scientist can perform a test cross. The organism in question is crossed with an
organism that is homozygous for the recessive trait, and the offspring of the test cross are examined.
LIMITATIONS OF GWAS
 Prone to error because they include so many data points
 They reveal associations between two types of information, and not causes.
 How the patient population is selected can introduce bias to the study.
 Individuals in the control population might not actually be healthy or might have problems other than
one being investigated.
 Genetic heterogeneity, in which different genes cause the same trait or condition, could also be a
source of error.
 They miss extremely rare SNPs or the people who share symptoms and a SNP pattern may share
something else that accounts for the association such as environmental exposure.
IT LOOKS FOR ALLELES THAT HAVE ONLY MODEST EFFECT SIZE AND LOW PENETRANCE UNLIKE
MEDELIAN DISEASES, WHICH HAVE RARE ALLELE FREQUENCY BUT HIGH PENETRANCE
GENES AND BODY WEIGHT
 Unlike rare genetic disorders, body weight is a multifactorial trait that we all have
 Many genes affect body weight
  Scientists use body mass index (BMI) which is weight in proportion to height as a tool for
measurement.
Friendly Tip:
 BMI <18.5- underweight
 Between 18.5 and 24.9- Healthy
 >25- overweight
LEPTIN
 A hormone predominantly made by adipose cells and enterocytes in the small intestine that helps to
regulate energy balance by inhibiting hunger, which in turn diminishes fat storage in adipocytesis
 A protein hormone found in mice and humans which stimulates cells in hypothalamus to decrease
appetite and metabolize nutrients.
GHRELIN
 Is a peptide hormone produced in the stomach that responds to hunger, signaling the hypothalamus to
produce more of the appetite accelerator
 Termed the ‘hunger hormone’ because it stimulates appetite, increases food intake and promote fat
storage.

GENES AND BEHAVIOR

 Genes contribute to how we respond to environmental stimuli and therefore affect behavior, which
included mood, emotion, intelligence, and personality
 Candidate genes for behavioral traits and disorders affect neurotransmission and signal transduction
 Analyzing behavior is difficult because symptoms of different syndromes overlap, study participants can
provide biased information, and behaviors can be imitated.
EATING DISORDER
 Eating disorders affect both sexes and are prevalent in the whole world. Twin studies indicate high
heritability.
 Candidate genes for eating disorders include protein products that control appetite & the
neurotransmitters dopamine & serotonin
 Most eating disorders are much more common in women and girls than in men and boys
Friendly Tip:
 Eating disorder are illnesses, not character flaws or choices. You also can’t tell whether a person has an
eating disorder
SLEEP
 Twin studies and single-gene disorders that affect the sleep-wake cycle reveal a large inherited
component to sleep behavior. A single gene causes narcolepsy both in dogs and humans
 A large family with familial advanced sleep phase syndrome enabled researchers to identify the first
“clock” gene in humans. The period gene enables a person to respond to day & night environmental
cues.
Friendly Tip
 When people worry or stress so much how to avoid sleep, they probably have an extreme fear of sleep
(somniphobia)
INTELLIGENCE
 Intelligence is difficult to define and measure
 The general intelligence (g) value measures the inherited portion of IQ that may underlie population
variance in IQ test performance.
 Heritability for intelligence increases with age, suggesting that environmental factors are more
important early in life
 Individual genes affect intelligence
 Many chromosomal disorders affect intelligence, suggesting high heritability.
Friendly Tip:
 Study finds large proportion of intellectual disability is not genetically inherited.
DRUG ADDICTION
 Drug addiction arises from tolerance and dependence
 Proteins involved in drug addiction affect neurotransmission and signal transduction
 Candidate genes for drug addiction include dopamine D(2) receptor & variants in nicotinic receptor
parts
 Nicotine binds to a receptor that normally binds acetylcholine, causing dopamine release & pleasure.
Friendly Tip:
 Studies along the brain imaging scans, have repeatedly demonstrated genetics play a greater role in
addiction than any external factors.
MOOD DISORDER
 Major depressive disorders
 Bipolar disorder
Friendly Tip:
 Mood disorders can run in families
 Mental illness, mental health disorders, mental problems are all medical health conditions.
SCHIZOPHRENIA
 Schizophrenia greatly disrupts the ability to think and perceive the world, causing delusions and
hallucinations
 Empiric risk estimates and heritability indicate a large genetic component. Moreover, studies have
implicated several candidate genes and chromosomal regions as possible causes
AUTISM
 Neuroligins and neurexins are types of proteins embedded in the cell membranes of certain brain
neurons that join across synapses, permitting neural connections to form in response to environmental
stimuli.
 These proteins are abnormal in some cases in autism which may explain how the condition arises from
failure of synapses to form that enable a child to integrate experiences.
REMEMBER: Multifactorial Inheritance will show low penetrance because not all mutated genes result in a
phenotype. But since its not currently feasible to screen everyone, we rely on family history and trigger factor.