NURS 804 (ADVANCE EPIDEMIOLOGY

DISEASE CAUSATION: THE ROLE OF GENETIC AND

ENVIRONMENT IN DISEASE CAUSATION
BY
SOLOMON RIMAMCHIRIKA (P21AHNS8002)
DAHIRU RAFATU (P21AHNS8001)
POST GRADUATE SCHOOL, AHMADU BELLO
UNIVERSITY ZARIA
COURSE COORDINATOR: DR RAHMATU BALARABE
3RD AUGUST 2023

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 INTRODUCTION

DISEASE CAUSATION

THEORIES OF DISEASE
PRESENTATION CONTENTS CAUSATION

ROLE OF GENETIC AND

ENVIRONMENT

CONCLUSION
REFERENCE
 OBJECTIVES
At the end of the presentation,
participants should be able to:
 Define disease causation
 Mention 3 factors in disease
causation
 List 4 theory of disease
causation
 Explain the relationship of
genetic and environment in
disease causation

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 INTRODUCTION
“Something must kill a man” is a common slang in
contemporary society by individual who are unwilling to
adhere to health promoting behaviours.
Behind every natural death there is a disease and behind
every diseases there also a cause.
Disease is any harmful deviation from the normal
structural or functional state of an organism,
Disease is associated with certain signs and symptoms and
differing in nature from physical injury

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 INTRODUCTION

Disease –physical /psychological dysfunction, a direct

opposite of health
Illness- a subjective state of the person who feels aware of
not being well
Sickness- a state of social dysfunction (i.e., a role that the
individual assumes when ill)

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 INTRODUCTION

Everything has a cause; chances merely is a term that we

use when we cannot explain something because of
limitation in our knowledge
The common goal of epidemiologist, probabilist and
determinist is to learn about what cause and prevent
diseases
Epidemiologist study disease causation and prevention
through the process of casual inference

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 What is a cause?

Is that which produces an effect, result, or consequence.

one, such as a person, event, or condition, that is
responsible for an action or result
Epidemiologically an event, condition or characteristics
that precede the disease onset, and that has the event,
condition or characteristics has been different…the disease
would not have occurred at all or would not have occurred
until some later time

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 What is a cause?

Three attribute of a true cause include association, time

order and direction
Risk vs cause

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 Disease causation:

Any event or condition, characteristics or combination of

these factor which plays an important role in producing the
disease.
cause may not be a single factor and often comprises
several components.
in case of food poisoning due to Salmonella. The presence of
Salmonella is necessary cause. Contaminated food (salad) is
the sufficient cause.
Necessary cause is the component of sufficient cause

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 FACTORS INVOLVED IN DISEASE
CAUSATION:
Predisposing factor may create a state of susceptibility of
disease to host. E.g., age, sex, previous illness.
Enabling factor favours the development of disease. E.g.,
poor housing, poor sanitation, poor nutrition, low economy.
Precipitating factor is most important for disease causation.
It is associated with onset of disease. E.g., exposure to
specific infectious agents or toxins.
Re-enforcing factor may aggravate and establish disease.
E.g, repeated exposure, hard work.

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 ESTABLISHING CAUSE OF DISEASE

Causal inference:
It is the term used for the process of determining whether
observed association are likely to be causal for establishing
disease.

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 GUIDELINES FOR CAUSAL INFERENCE

Temporal relationship: Most crucial factor cause must

proceed the effect (disease). This type of relation is called
temporal relationship.
Plausibility: Association should be possible (plausible). Is
the association consistent with the knowledge or not?
Consistency: Different studies should lead the same result.

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 GUIDELINES FOR CAUSAL INFERENCE

Strength: Strength should be higher. It can be determined

by odds ratio.
Dose-response relationships: Should be applicable to the
cause and effect.
Reversibility: If exposure is present, effect is seen and on
removal of exposure causes absence of effect.

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 Theory of disease causation
Supernatural causes (e.g., being possessed by evil spirits,
wrath of gods, punishment for evil deeds during previous
births and so on)
Contagion theory- attempts were made to relate the
human disease to “bad air” or to various forms of close
contacts with diseased person
“miasma” theory - human diseases are due to bad clouds
which are denser at lower altitudes and hence diseases are
more common among people who live nearer to the earth
or sea level

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 THEORY OF DISEASE CAUSATION

Germ Theory: Germ theory of the human disease

emphasized that each human disease must be caused by a
microbe or germ, which is specific for that disease, and one
must be able to isolate the microbe from the diseased
human being.

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 EPIDEMIOLOGICAL TRIANGLE
3 important determinants of the state of
health or disease in a human being,
namely
The agent factors : Related to the
various characteristics of the “agent”
which causes the disease
The host factors : relate to various
characteristics of the human being
himself
The environmental factors : Which
relate to the various characteristics of
the environment in which the human
being is living

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 THE “BEINGS” MODEL OF DISEASE
CAUSATION
Another recent concept postulates that human disease and its
consequences are caused by a complex interplay of nine different
factors –
Biological factors innate in a human being,
Behavioural factors concerned with individual lifestyles,
Environmental factors as physical, chemical and biological
aspects of environment,
Immunological factors, Nutritional factors, Genetic factors, Social
factors, Spiritual factors and Services factors related to the various
aspects of health care services

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 THE THEORY OF “WEB OF
CAUSATION
The web of causation is the
interrelationship of several
disease-causing or risk factors
that contributes to leading to a
specific disease or medical
condition.

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 THE THEORY OF “WEB OF
CAUSATION
This model of causation of disease considers all the predisposing
factors and their interrelationship with each other.
It is more suited to chronic diseases where agent is not known
The web of causation does not imply that the disease cannot be
controlled unless all the multiple causes or factors are controlled
or removed
Sometimes removal or control of one link key factor in the
pathogenesis is enough to control the disease.
Relative risk=incidence of disease among expose and non expose

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 THEORY OF FOUR HUMORS

It proposes that the body is constituent of four humor;

blood, phlegm, yellow bile and black bile. Any imbalance
in these resulted in disease.

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 MULTI FACTORIAL CAUSATION

Advances in public health, chemotherapy, antibiotics and

vector control, communicable diseases are reduced
This was replaced by many modern diseases namely lung
cancer, coronary heart disease, mental illness, diabetes
which are not caused by any germs or can be cured or
prevented by the traditional method of isolation,
immunization or improvements in sanitation.

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 MULTI FACTORIAL CAUSATION
This led to the realization that single cause idea was an
oversimplification and there are other factors causing the
disease viz., Social, Economic, Cultural, Genetic and
Psychological
Tuberculosis occurs not only due to the contact with the
agent tubercle bacilli but also due to other factors which
includes poverty, overcrowding and malnutrition
Multifactorial causation offers multiple approaches for
the prevention or control of disease.

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 WHEEL OF DISEASE CAUSATION:

It eliminates the agent as a sole cause of disease, but

emphasizes the complex interaction of physical, biological,
and social environments. It also introduces genetics into
the mix.
The outer circumference is divided between
environmental factors comprising of social, biological, and
physical factors. The core depicts the genetic component

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 WHEEL OF DISEASE CAUSATION:

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 GENETIC AND ENVIRONMENT IN DISEASE
CAUSATION
Two event to described the role of genetic and
environment in disease causation are:
Genetics loads the gun, environment and lifestyle pulls the
trigger
Nature and nurture
Therefore, many diseases especially non-communicable
diseases occur as a result of interaction between genetic
factor and the environment e.g., Asthma and virtually all
the psychosomatic disorder

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 Genetic factor

Genetics is the branch of science that focuses on the knowledge

of heredity and variations of organisms
Genes are composed of DNA (hereditary material) and protein.
They are the basic functional and physical units of heredity.
There are approximately 30,000 genes in the human genome.
The genome is an organism’s complete set of DNA.
Numerous genes are located on each human chromosome.
Each human cell contains 46 chromosomes

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 Genetic factor
There are 22 homologous pairs of chromosomes and one pair of
sex chromosomes (XX or XY).
Genotype refers to a person’s genetic makeup.
Phenotype refers to how the genes are outwardly expressed, (i.e.,
eye color, hair color, height)
Chromosome- Rod-shaped structures within the cell nucleus that
carry genes encoded by DNA
Deoxyribonucleic acid. Composed of nucleic acids, these
molecules encode the genes that allow genetic information to be
passed to offspring

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 genetic
Ribonucleic acid.
Nucleic acids that are
formed using DNA as a
template.
Like DNA except has
ribose in place of
deoxyribose and uracil
in place of thymine

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 Genetic

Autosomal DNA is a term used in genetic genealogy to

describe DNA which is inherited from the autosomal
chromosomes.
 An autosome is any of the numbered chromosomes, as
opposed to the sex chromosomes
Hereditary is transmission of traits from parent to
offspring

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 Genetic

Genes are either Dominant or Recessive.

When there is both a dominant and a recessive gene in the
pair, the traits of the dominant gene present.
The traits of the recessive gene are present when both
genes of the pair are recessive.
Genetic diseases or disorders are usually related to a
defective recessive gene and present in the developing
human when both pairs of the gene have the same defect

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 Genetic

Examples of common recessive genetic disorders are :

Cystic fibrosis, Sickle cell anemia, Thalassemia and Tay-
Sachs disease
 A person who has only one recessive gene for a disorder is
known as a carrier and does not present with the disorder.
Genetic disorders related to a dominant gene are rare

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 Genetic

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 Genetic

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 Example of Genetic diseases
Sickle-cell The most common genetic disease among people
anemia (r)
of African ancestry. Sickle-cell hemoglobin forms
rigid crystals that distort and disrupt red blood
cells (RBCs); oxygen-carrying capacity of the
blood is diminished
Cystic The most common genetic disease among people
fibrosis (r)
of European ancestry. Production of thick mucus
clogs in the bronchial tree and pancreatic ducts.
Most severe effects are chronic respiratory
infections and pulmonary failure.
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 Example Genetic diseases
Tay-sachs The most common genetic disease among
disease (r) people of Jewish ancestry. Degeneration of
neurons and the nervous system results in
death by the age of 2 years.
Phenylketonuri Lack of an enzyme to metabolize the amino
a or pku (r) acid phenylalanine leads to severe mental and
physical retardation. These effects may be
prevented using a diet (beginning at birth)
that limits phenylalanine.
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 Example of Genetic diseases
Huntington Uncontrollable muscle contractions
’s disease between the ages of 30 and 50 years,
(d) followed by loss of memory and
personality.
An inherited condition in which nerve
cells in the brain break down over time
There is no treatment that can delay
mental deterioration.
Hemophili Lack of factor VIII impairs chemical
a clotting; may be controlled with factor
(x-linked) VIII from donated blood.
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 Example of Genetic diseases

Duchenne’s Replacement of muscle by

muscular adipose or scar tissue, with
progressive loss of muscle
function;
Dystrophy Often fatal before age 20
(x-linked) years due to involvement of
cardiac muscle.
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Environmental factors/ teratogens(prenatal and natal
stage
Environmental factor or teratogens are any agent that can induce
or increase the incidence of a congenital malformation
Any drugs, viruses, infections, or other exposures that can cause
embryonic/fetal developmental abnormality
Birth defects can occur from genetic disorders or be the result of
teratogen exposure.
The degree or types of malformation vary based on length of
exposure, amount of exposure, and when it occurs during human
development

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 Environmental factors/ teratogens

The developing human is most vulnerable to the effects of

teratogens during organogenesis, which occurs during the
first 8 weeks of gestation.
Exposure during this time can cause gross structural
defects (American College of Obstetricians and
Gynecologists [ACOG], 1997).
Exposure to teratogens after 13 weeks of gestation may
cause fetal growth restriction or reduction of organ size
(ACOG,1997)

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 common environmental /teratogenic factor
Intrauterine infections especially STORCH (syphilis,
toxoplasmosis, Rubella, cytomegalovirus, and herpes virus)
Drug intake by the mother during pregnancy like steroid
hormones, stilbestrol, anticonvulsants, folate antagonists, cocaine
lithium, thalidomide, etc.
X-ray exposure during Pregnancy
Maternal disease like diabetes, cardiac failure, malnutrition, folic
acid deficiency. Iodine deficiency disorders, endocrine
abnormalities, etc.

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 common environmental /teratogenic factor

Abnormal intrauterine environments like bicornuate

uterus, septed uterus, polyhydramnios, fetal hypoxia, etc.
Maternal addiction with alcohol, tobacco, or smoking
(active or passive)
Environmental pollution, especially air pollution

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 Effect of teratogens

Effects of the teratogens depends upon the severity of

exposure, the gestational age of the fetus at the time of
exposure and the maternal and fetal immune response to
the teratogenic agents.
The fetus is potentially susceptible to some teratogenic
effect even after the completion of organogenesis.
The ultimate effect may be death, malformations, growth
retardation of fetus or functional disorder

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09/12/20 congenital malformation
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 Beyond the prenatal and natal stage
The totality of the environment is considered for a proper
understanding of the role of the environment in diseases
causation
The totality of the environment include macro-
environment, micro-environment and physiological
environment

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 Macro-environment

Macro-environmental factors are political, economic, and

national factors.
They includes governance structures, climate change, war
and conflict zones, as well as natural disasters, among
other things.

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 Micro-environment

Geography
Geographic aspects can include global location, country
region within a country, and urban/rural location
Natural environment
The natural environment encompasses air, water, soil, trees,
and green space. It includes both biotic(living) factors and
abiotic (non-living chemical and physical parts) factors

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 Micro-environment

Built environment: The built environment refers to housing,

community structures, and things like roadways and other
transportation structures people might be exposed to in in
lives
Food system: Food systems include factors related to food
sources, food distribution, levels of food security or
insecurity, as well as concepts such as food desserts (an area
that has limited access to affordable and nutritious food).

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 Physiological environment

Consisting of all that is content and happen within an

individual e.g., individual defense system, dehydration etc.

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 Key environmental factor in disease causation

Poor sanitation services and lack of clean water access

Air pollution (indoor and outdoor)
Inadequate housing/shelter
Changing land use and climate affecting all aspects of life
including food production and access, culture, and
livelihoods
Pollution and exposure to toxics in the environment

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 CONLCUSION
The must pressing challenge
facing humanity today is
how we can remove the
cause of diseases so that
human being can live
without being sick
Can we ever achieve it?

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 REFERENCE
 Dharmashree Satyarup, Manish Kumar, Radha Prasanna Dalai, Sharmistha Mohanty, Karishma R. Rathor (2020),
Theories of Disease Causation: An Overview, Indian Journal of Forensic Medicine & Toxicology, October-December
2020, Vol. 14, No. 4
 Guarab Karki(2020), Concept of Disease causation in epidemiology and management of disease, access on 3 rd August
2023, from https://www.onlinebiologynotes.com/concept-of-disease-causation-in epidemiology-and-management-of
disease/#:~:text=Any%20event%20or%20condition%2C%20characteristics,of%20Salmonella%20i%20necessary
%20cause.
 Course Hero (2023), Environmental determinants of health, module 2, access on 23/08/23 from
https://www.coursehero.com/u/file/194697541/Module-02-Environmental-Determinants-of-Healthpdf/

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THANK YOU FOR
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