Chapter 5: Genes, Environment-Lifestyle, and Common Diseases

MULTIPLE CHOICE
1. The data reporting that sickle cell disease affects approximately 1 in 600 American blacks is

an example of which concept?

a. Incidence
b. Prevalence

c. Ratio
d. Risk

ANS: B

Prevalence rate is the proportion of the population affected by a disease at a specific point in
time. Thus both the incidence rate and the length of the survival period in affected individuals
determine prevalence. The incidence rate is the number of new cases of a disease reported
during a specific period (typically 1 year), divided by the number of individuals in the
population. A numerical expression representing a part of a larger whole or proportion is
considered a ratio. Any factor that increases the chance of disease or injury is considered a
risk.
PTS: 1

REF: Page 165

2. The ratio of the disease among the exposed population to the disease rate in an unexposed

population is referred to as what type of risk?

a. Attributable
b. Contingency

c. Causal
d. Relative

ANS: D

A common measure of the effect of a specific risk factor is the relative risk. Assuming a factor
is the cause of a disease, attributable risk is the amount of risk that is due to that factor. A
future event or circumstance that is possible but cannot be predicted with certainty is a
contingency risk. The probability of the outcome is termed a causal risk factor.
PTS: 1

REF: Page 165

3. Empirical risks for most multifactorial diseases are based on:

a. Chromosomal testing
c. Liability thresholds
b. Direct observation
d. Relative risks
ANS: B

For most multifactorial diseases, empirical risks (i.e., risks based on direct observation of
data) have been derived. The other options are not the basis for determining the empirical risk
of most multifactorial diseases.
PTS: 1

REF: Page 167

4. What is the cause of familial hypercholesterolemia (FH)?

a. Diet high in saturated fats
b. Increased production of cholesterol by the liver
c. Reduction in the number of low-density lipoprotein (LDL) receptors on cell

surfaces
d. Abnormal function of lipoprotein receptors circulating in the blood

ANS: C

A reduction in the number of functional LDL receptors on cell surfaces causes FH. Lacking
the normal number of LDL receptors, cellular cholesterol uptake is reduced and circulating
cholesterol levels increase (see Box 5-3). The other options are not the basis for developing
familial FH.
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REF: Page 173 | Box 5-3

5. Which risk factor for hypertension is influenced by genetic factors and lifestyle?
a. Sodium intake
c. Psychosocial stress
b. Physical inactivity
d. Obesity
ANS: D

The most important environmental risk factors for hypertension are increased sodium intake,
decreased physical activity, psychosocial stress, and obesity. However, obesity is, itself,
influenced by genes and the environment.
PTS: 1

REF: Page 172

6. What percentage of all cases of breast cancer are identified as an autosomal dominant form?
a. 5
c. 15
b. 10
d. 20
ANS: A

An autosomal dominant form of breast cancer accounts for approximately 5% of breast cancer
cases in the United States.
PTS: 1

REF: Page 172 | Page 174

7. When a woman has one first-degree relative with breast cancer, her risk of developing breast

cancer is how many times greater?

a. 2
b. 3

c. 6
d. 10

ANS: A

If a woman has one affected first-degree relative, her risk of developing breast cancer doubles.
PTS: 1

REF: Page 172

8. Adoption studies have shown that the offspring of an alcoholic parent when raised by

nonalcoholic parents have what amount of an increased risk of developing alcoholism?

a. Twofold
c. Fourfold
b. Threefold
d. Tenfold
ANS: C

Adoption studies have shown that the offspring of an alcoholic parent, even when raised by
nonalcoholic parents, have a fourfold increased risk of developing the disorder.
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REF: Page 179

9. Studies have identified several genes that play a role in the prevention of obesity by affecting

what?

a. Regulation of appetite
b. Metabolizing of fat

c. Absorption of fat
d. Altering the sense of satiety

ANS: A

Clinical trials using recombinant leptin have demonstrated moderate weight loss in a subset of
obese individuals. In addition, leptin participates in important interactions with other
components of appetite control, such as neuropeptide Y and melanocyte-stimulating
hormone and its receptor, the melanocortin-4 receptor (MC4R). Currently, no research
supports the other options as being genetically regulated.
PTS: 1

REF: Page 178

10. The BRCA1 and BRCA2 mutations increase the risk of which cancer in women?
a. Ovarian
c. Uterine
b. Lung
d. Pancreatic
ANS: A

BRCA1 mutations increase the risk of ovarian cancer among women (20% to 50% lifetime
risk), and BRCA2 mutations also confer an increased risk of ovarian cancer (10% to 20%
lifetime prevalence). BRCA1 and BRCA2 mutations are not currently believed to be linked
with risks of lung, uterine, or pancreatic cancers.
PTS: 1

REF: Page 174

11. Blood pressure variations are associated with:

a. 1-adrenergic receptors to increase heart rate
b. The release of an antidiuretic hormone (ADH) that increases water reabsorption
c. The renin-angiotensin systems effect on vasoconstriction
d. Serum bradykinin, causing vasodilation
ANS: C

Significant research is now focused on specific components that may influence blood pressure
variation, such as the renin-angiotensin system (involved in sodium reabsorption and
vasoconstriction). The other options are not related to hypertension.
PTS: 1

REF: Page 172

12. The two most important risk factors for type 2 diabetes are:
a. Autoantibodies and human leukocyte antigen associations
b. Autoantibodies and obesity
c. Obesity and positive family history
d. HLA associations and positive family history
ANS: C

The two most important risk factors for type 2 diabetes are positive family history and obesity.
The other options are not believed to be important risk factors for this form of diabetes.
PTS: 1

REF: Pages 177-178

13. A major characteristic of type 1 diabetes mellitus is that there is:

a. Partial insulin secretion
c. Insulin resistance
b. An autoimmune cause factor
d. Obesity as a common risk factor

ANS: B

A strong association between type 1 diabetes and the presence of several human leukocyte
antigen (HLA) class II alleles indicate that type 1 diabetes mellitus is an autoimmune disease.
The remaining options are associated with type 2 diabetes.
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REF: Page 174

14. Obesity acts as an important risk factor for type 2 diabetes mellitus by:
a. Reducing the amount of insulin the pancreas produces
b. Increasing the resistance to insulin by cells
c. Obstructing the outflow of insulin from the pancreas
d. Stimulating the liver to increase glucose production
ANS: B

People with type 2 diabetes mellitus suffer from insulin resistance (i.e., their cells have
difficulty using insulin). The other options are not associated with the effect of obesity
regarding insulin production.
PTS: 1

REF: Pages 177-178

15. Traits caused by the combined effects of multiple genes are referred to by which term?
a. Polygenic
c. Modifiable
b. Multifocal
d. Involuntary
ANS: A

Traits in which variation is thought to be caused by the combined effects of multiple genes are
polygenic, meaning many genes. Multifocal means relating to or arising from many points.
Modifiable refers to the changeability of something. Involuntary suggests being out of the
control of someone or something.
PTS: 1

REF: Page 165

16. Regarding type 2 diabetes, obesity is considered to be what type of risk?

a. Genetic
c. Relative
b. Empirical
d. Modifiable
ANS: D

Obesity is a modifiable risk factor for many diseases including heart disease, stroke,
hypertension, and type 2 diabetes. The other terms do not apply.
PTS: 1

REF: Pages 177-178

17. Which disease form is identified on the basis of empirical risk observation?
a. Polygenic
c. Monozygotic
b. Multifactorial
d. Genetic
ANS: B

For most multifactorial diseases, empirical risks (i.e., risks based on direct observation of
data) have been derived. Traits in which variation is thought to be caused by the combined
effects of multiple genes are polygenic. Monozygotic is a term that refers to identical twins.
Genetic refers to issues related to genes and their influence on the body.

PTS: 1

REF: Page 167

18. The number of persons living with a specific disease at a specific point in time is referred to

by which term?
a. Relativity
b. Survivability

c. Prevalence
d. Incidence

ANS: C

The prevalence rate is the proportion of the population affected by a disease at a specific point
in time. Thus both the incidence rate and the length of the survival period in affected
individuals determine prevalence. The description in the question does not relate to any of the
other options.
PTS: 1

REF: Page 164

19. Which type of cancer is said to aggregate among families?

a. Breast
c. Skin
b. Lung
d. Brain
ANS: A

Breast cancer appears to aggregate strongly in families. The other cancers are not believed to
be familial in nature.
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REF: Page 172

20. Which dietary lifestyle choice has been associated with a decreased risk for developing colon

cancer?
a. Increased consumption of dairy produces
b. Increased consumption of foods containing vitamin C
c. Decreased consumption of foods high in fat
d. Decreased consumption of artificial food coloring
ANS: C

A low-fat, high-fiber diet is thought to decrease the risk of colon cancer.

PTS: 1

REF: Page 165

21. It is currently believed that the risk for developing Alzheimer disease:
a. Is not directly related to genetic predisposition.
b. Is higher among men than it is among women.
c. Occurs less among Hispanics than in Asians.
d. Doubles among those with an affected first-degree relative.
ANS: D

The risk of developing Alzheimer disease doubles in individuals who have an affected firstdegree relative. The other statements are not true.
PTS: 1

REF: Page 178

22. The number of new cases of a disease reported during a specific period divided by the number

of individuals in the population is defined as which characteristic of a disease?

c. Relative risk

a. Prevalence rate

b. Incidence rate

d. Frequency

ANS: B

The incidence rate is the number of new cases of a disease reported during a specific period
(typically 1 year) divided by the number of individuals in the population. The description
provided in the question does not describe any of the other options.
PTS: 1

REF: Page 164

MULTIPLE RESPONSE
23. Cancers that cluster strongly in families include: (Select all that apply.)
a. Breast
b. Colon
c. Ovarian
d. Lung
e. Brain
ANS: A, B, C

Although breast, ovarian, and colon cancers have shown a strong familial tendency, lung and
brain cancers have not.
PTS: 1

REF: Page 172

24. Which genes are responsible for an autosomal dominant form of breast cancer? (Select all that

apply.)
LCAT
CHK1
CHK2
BRCA1
BRCA2

a.
b.
c.
d.
e.

ANS: D, E

Women who inherit a mutation in BRCA1 or BRCA2 experience a 50% to 80% lifetime risk of
developing breast cancer. The other options do not carry this risk.
PTS: 1

REF: Page 174

25. Lifestyle modifications that affect health-related risk factors include: (Select all that apply.)
a. Diet
b. Exercise
c. Education
d. Finances
e. Stress reduction
ANS: A, B, E

Lifestyle modification (e.g., diet, exercise, stress reduction) can often reduce health risks
significantly. Education and finances have not been shown to have an effect on health in a way
that involves lifestyle modifications.
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REF: Page 180

26. What factors are typically considered when assessing an individuals risk for developing such

common diseases as hypertension? (Select all that apply.)

Age
Diet
Exercise habits
Family history
Spiritual beliefs

a.
b.
c.
d.
e.

ANS: A, B, C, D

Many factors influence the risk of acquiring a common disease, such as cancer, diabetes, or
hypertension. These factors can include age, gender, diet, exercise, and family history of the
disease. Current research does not support a connection between spiritual beliefs and the
development of hypertension.
PTS: 1

REF: Page 165

27. Examples of multifactorial diseases associated with adults include: (Select all that apply.)
a. Breast cancer
b. Coronary heart disease
c. Emphysema
d. Diabetes mellitus
e. Schizophrenia
ANS: A, B, D, E

Multifactorial diseases in adults include coronary heart disease, hypertension, breast cancer,
colon cancer, diabetes mellitus, obesity, Alzheimer disease, alcoholism, schizophrenia, and
bipolar affective disorder. Emphysema is not considered multifactorial.
PTS: 1

REF: Pages 171-180

MATCHING

Match the terms with the corresponding descriptions.

______ A. Incidence rate effect of multiple genes
______ B. Gene-environment interaction
______ C. Prevalence rate at which some diseases occur
______ D. Obesity
______ E. Polygenic
______ F. Empirical risk
______ G. Relative risk
28.
29.
30.
31.
32.
33.
34.

Traits caused by the combined effects of multiple genes

Number of persons living with the disease
Yields an increased risk for some diseases
Modifiable risk factor for many diseases
Number of new cases (persons) detected with the disease
Measure of the effect of a specific risk factor
Risks based on direct observation of data

28. ANS: E

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REF: Page 165

29.

30.

31.
32.
33.
34.

MSC: Traits in which variation is thought to be caused by the combined effects of multiple genes are
polygenic (i.e., many genes).
ANS: C
PTS: 1
REF: Page 164
MSC: The prevalence rate is the proportion of the population affected by a disease at a specific point
in time. Thus both the incidence rate and the length of the survival period in affected individuals
determine prevalence.
ANS: B
PTS: 1
REF: Page 171
MSC: In some cases, a genetic predisposition may interact with an environmental factor to increase
the risk of disease to a significantly higher level than would either factor acting alone. A good example
of a gene-environment interaction is given by 1-antitrypsin deficiency, a genetic condition that causes
pulmonary emphysema and is greatly exacerbated by cigarette smoking (see Box 5-2).
ANS: D
PTS: 1
REF: Pages 177-178
MSC: Obesity is a modifiable risk factor for many diseases including heart disease, stroke,
hypertension, and type 2 diabetes.
ANS: A
PTS: 1
REF: Page 164
MSC: The incidence rate is the number of new cases of a disease reported during a specific period
(typically 1 year), divided by the number of individuals in the population.
ANS: G
PTS: 1
REF: Page 165
MSC: A common measure of the effect of a specific risk factor is the relative risk.
ANS: F
PTS: 1
REF: Page 167
MSC: For most multifactorial diseases, empirical risks (i.e., risks based on direct observation of data)
have been derived.