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Cause of Disease

Yang Haiyan
Epidemiology is a discipline to study
distribution (or occurrence and development)
of diseases and health conditions in human
populations and the determines influencing
the distribution as well as to study the
measures for the prevention and control of
disease and promotion of health.



• Definition and Models of Cause of
• Classification of Cause of Diseases
• Process of Study on Cause of Disease
• Evaluation of Presence of A Valid
Statistical Association
• Criteria in the Judgment of Cause of
Section 1 Definition and
Models of
Cause of Disease
• Definition of Cause of Disease
Cause of disease is the factors
which can increase the incidence
rate of disease. And if one or
more of these factors don’t exist,
the incidence rate of population
will decrease.
In epidemiology, we can also
describe these factors as risk
factors. That means these factors
can be indirect causes of disease .

For example,
smoking--?--?--?--?---lung cancer
• Models of Cause of Disease
(1)    Organism Human Disease
only suitable for infectious diseases.
For example, tubercle germ---
tuberculosis ( TB )

However, the organism alone is an

essential factor, but not a sufficient
factor for infectious diseases.
(2)    Triangle Model

Pathogen Environment

For example, influenza virus influenza.

In fact, this model is also suitable for
infectious diseases. But, in this
model, environments are attended.

For example:
tubercle + low level of immunity

(3)    The Wheel Model
Social Environment


Genetic Core Environment
The relative size of the different
components of the wheel depend upon
the specific disease.
For hereditary diseases, the genetic core
would be relatively large.
For a disease like measles, the genetic
core would be smaller, the state of
immunity of the host and biological
sector of environment would be larger.
Section 2
Classification of Cause
of Diseases
Host Factor (Intrinsic)
Genetic Factor
(1) Genetic Factor
Most diseases have relationship
with genetic factor , but the degree
is different.
Some diseases only due to genetic
factors, such as color blinding.
Some diseases partly due to genetic
factors,partly due to environment
For example, ABO blood type
Type A gastric cancer
Type O duodenal ulcer
(2) Immunity
low immunity---tuberculosis
(3) Personality
Type A: CHD (coronary heart
Type B: Cancer
Environmental Factors
(1)  Biological Environment
such as bacteria, virus
(2)   Social Environment
In Japan stomach cancer
(3)    Physical Environment
Including heat, light, air, water, radiation,
atmospheric pressure, and so on.
Air pollution chronic respiratory
disease, such as chronic bronchitis and
lung cancer
(4)    Chemical Environment
Such as heavy metal, trace element.
Section 3 Process of
Study on
Cause of
1 Descriptive study to understand
the distribution of disease
formulate etiologic hypotheses

For example: smoking and lung

For example: lung cancer
At the begin,we don’t know the cause
of lung cancer.
Through descriptive study, we can
know the characters of distribution
of this disease.
Population: incidence rate
in male>female
in older>younger
Place: consumption of tobacco is
more,incidence rate is higher.
Time: current year> before time

Raise clue or hypotheses of cause:


True or not? Analytic Study

2 Analysis study and experimental
test the hypotheses
Patients with lung
Two groups
study: survey


Frequency of smoking in group 1 > group 2

Relationship exists
But, We can not estimate cause-
effect relationship.
Why? The direction of this kind study
is retrospective, cause effect.

If we want to know whether there is

cause—effect relationship, we must
do cohort study.
• Cohort study
smoking Follow up
Two groups
Incidence rate of lung cancer in smoking group >

Non-smoking group

Cause-effect relationship exits

Because the direction of cohort study is

cause effect
Experimental Epidemiology
Clinical trails

Intervention test

Filed trail
Example of intervention test:
Lung cancer ----- smoking
Experimental group
Smoking people
Control group

Give up smoking Follow up Comparing

incidence rate
Continue smoking

If group 1 < group 2 Cause-effect

3    Judgment of A Cause-effect

In this chapter, we mainly talk about

judgment of cause-effect relationship.

But ,before this we must do a work

firstly,that is:
Section 4 Evaluation of
Presence of
A Valid Statistical
In epidemiology study ,we can find
relationship between cause and disease,
but it is just a statistical association. That
means it’s may be the true effect of an
exposure on the development of disease,
and it also possible has other explanation:
① it’s maybe spurious association
② it’s maybe indirect association
1 Spurious Association
In the course of epidemiology such as
design, selecting subjects, dividing
groups,collecting data and analysis
data, if there is difference between
this two groups, the result we
obtained is error, we can also call the
relationship as spurious association.
For example: smoking --- lung cancer
In case-control study
male female
Patient group: 80% 20%
Control group: 50% 50%
Result : smoking frequency
patient group > control group
2 Indirect associationA

Example: smoking

Stomach Lung
ulcer cancer
Section 5 Criteria
in the Judgment of
Cause of Disease

There are about 6 criteria in the

judgment of cause of disease.
After epidemiological study has
been done we shall use these
criteria to deduce the cause of
1         Time Sequence
The exposure occurs in former and
the disease occurs in later, this is
an essential condition to judge a
cause-effect relationship.
It is easy to judge time sequence
in prospective cohort study , or
randomized trail.
But in case-control study or
cross-sectional study, it is
2 Strength of the Association
We usually express strength of the association
by use of risk ratio (RR) .
RR is more, the possibility of association
between exposure and disease is larger.
incidence rate of exposure group
incidence rate of non exposure group
RR of smoking and lung cancer is 9
RR of smoking and CHD is only 2
It is showed that smoking is more likely the
cause of lung cancer than CHD.
In general, if the design and analysis are all
correct and RR is more than 3 or 4, we can
believe that the exposure is the cause of
this disease.
3 Biologic Credibility
If there is a known or postulated
mechanism which supports a
cause and effect relationship, it
can enhance the relationship.
For example, smoking ---lung
There were so many chemical
carcinogens in tar, such as
arsenic, carbon monoxide, and
so on. Mean while , let dog
inhale the cigarette smoking
,the dog occurred lung cancer.
4         Reeligible of Association
To a cause-effect relationship, if different
researchers use different methods in
different time or different place among
different populations, they all show
similar or same results, this can support
association much more.
For example,
Doll and Hill smoking and lung
more than 7 times cohort
more than 35 times case-
control study
5         Dose-Response Relationship
When the degree of exposure has changed,
if the morbidity of disease changed
corresponding, the possibility of a cause-
effect relationship is more large.
For example, the more amount population
smoke every day, the higher mortality rate
they dead from lung cancer.
6 If eliminating the exposure,the
morbidity rate of disease will decrease.
For example, after having got rid of smoking ,we
found incidence rate and mortality rate of lung
cancer decrease.This enhance the
persuasiveness to cause-effect association.
In fact, this list also corresponding the second
sentence in definition of cause of disease.
These 6 are criteria when we judge a
cause-effect relationship . But that is
not to say, judging a relationship
must accord with all of this 6 criteria.
Time sequence is essential. For the
other 5criteria, the more criteria it
accords with, the higher possibility
the hypotheses establishes.
• Epidemiologists are concerned with
discovering the causes of disease in
the environment, nutrition, life-style,
and genes of individuals and
populations-------that is, the causes or
factors that when removed or modified
will be followed by a reduction in the
disease burde
• Several criteria must be met to
establish a causal relationship
between a factor and a disease
Important contents:
• Definition of cause of disease
• Process of Study on Cause of Disease
• Criteria in the Judgment of Cause of