Chapter 5: Genes, Environment-Lifestyle, and Common Diseases MULTIPLE C!ICE
1. The data reporting that sickle cell disease affects approximately 1 in 600 American blacks is
an example of which concept? a. Incidence b. re!alence
c. Ratio d. Risk
A"#$ %
re!alence rate is the proportion of the pop&lation affected by a disease at a specific p oint in time. Th&s both the incidence rate and the length of the s&r!i!al period in affected indi!id&als determine pre!alence. The incidence rate is the n&mber of new cases of a disease reported d&ring a specific period 'typically 1 year() di!ided by the n&mber of indi!id&als in the pop&lation. A n&merical expression representing representing a part of a larger whole or proportion is considered a ratio. Any factor that increases the chance of disease or in*&ry is considered a risk. T#$ 1
R+,$ age 16-
. The ratio of the disease among the exposed pop&lation to the disease rate in an &nexposed
pop&lation is referred to as what type of risk? a. Attrib&table c. /a&sal b. /ontingency d. Relati!e A"#$
A common meas&re of the effect of a specific risk factor is the relati!e risk. Ass&ming a factor is the ca&se of a disease) attrib&table risk is the amo&nt of risk that is d&e to that factor. A f&t&re e!ent or circ&mstance that is possible b&t cannot be predicted with certainty is a contingency risk. The probability of the o&tcome is termed a ca&sal risk factor. T#$ 1
R+,$ age 16-
. +mpirical risks for most m<ifactorial diseases are based on$ a. /hromosomal testing c. 2iability thresholds b. irect obser!ation d. Relati!e risks A"#$ %
,or most m<ifactorial diseases) empirical risks 'i.e.) risks based on direct obser!ation of data( ha!e been deri!ed. The other oth er options are not the basis for determining the e mpirical risk of most m<ifactorial diseases. T#$ 1
R+,$ age 163
4. 5hat is the ca&se of familial hypercholesterolemia ',(? a. iet high in sat&rated fats b. Increased prod&ction of cholesterol by the li!er c. Red&ction in the n&mber of low7density lipoprotein '22( receptors on cell
s&rfaces d. Abnormal f&nction of lipoprotein receptors circ&lating in the blood
A"#$ /
A red&ction in the n&mber of f&nctional 22 receptors on cell s&rfaces ca&ses ,. 2acking the normal n&mber of 22 receptors) cell&lar cholesterol &ptake is red&ced an d circ&lating cholesterol le!els increase 'see %ox -7(. The other options are no t the basis for de!eloping familial ,. T#$ 1
R+,$ age 13 8 %ox -7
-. 5hich risk factor for hypertension is infl&enced by genetic factors and lifestyle? a. #odi&m intake c. sychosocial stress b. hysical inacti!ity d. 9besity A"#$
The most important en!ironmental risk factors for hypertension are increased sodi&m intake) decreased physical ph ysical acti!ity) psychosocial stress) and obesity. owe!er) obesity is) itself) infl&enced by genes and the en!ironment. T#$ 1
R+,$ age 13
6. 5hat percentage of all cases of breast b reast cancer are identified as an a&tosomal dominant form? a. c. 1 b. 10 d. 0 A"#$ A
An a&tosomal dominant form of breast cancer acco &nts for approximately -: of breast cancer cases in the ;nited #tates. T#$ 1
R+,$ age 13 8 age 134
3. 5hen a woman has one first7degree relati!e with breast cancer) her risk of de!eloping breast
cancer is how many times greater? a. b.
c. 6 d. 10
A"#$ A
If a woman has one affected a ffected first7degree relati!e) her risk of de!eloping breast cancer do&bles. T#$ 1
R+,$ age 13
<. Adoption st&dies ha!e shown that the offspring o ffspring of an alcoholic parent when raised by
nonalcoholic parents ha!e what amo&nt a mo&nt of an increased risk of de!eloping alcoholism? a. Twofold c. ,o&rfold b. Threefold d. Tenfold A"#$ /
Adoption st&dies ha!e shown that the offspring o ffspring of an alcoholic parent) e!en when raised by nonalcoholic parents) ha!e a fo&rfold increased risk of de!eloping the disorder. T#$ 1
R+,$ age 13=
=. #t&dies ha!e identified se!eral genes that play a role in the pre!ention of obesity by affecting
what?
a. Reg&lation of appetite b. >etaboliing of fat
c. Absorption of fat d. Altering the sense of satiety
A"#$ A
/linical trials &sing recombinant leptin ha!e demonstrated moderate weight loss in a s&bset of obese indi!id&als. In addition) leptin participates in important interactions with other components of appetite control) s&ch as ne&ropeptide @ and α melanocyte7stim&lating hormone and its receptor) the melanocortin74 receptor '>/4R(. /&rrently) no research s&pports the other options as being genetically reg&lated. T#$ 1
R+,$ age 13<
10. The BRCA1 The BRCA1 and and BRCA2 BRCA2 m&tations m&tations increase the risk of which cancer in women? a. 9!arian c. ;terine b. 2&ng d. ancreatic A"#$ A
BRCA1 m&tations increase the risk of o!arian cancer among women '0: to -0: lifetime risk() and risk() and BRCA2 m&tations also confer an increased risk of o!arian cancer '10: to 0: lifetime pre!alence(. lifetime pre!alence(. BRCA1 BRCA1 and and BRCA2 BRCA2 m&tations m&tations are not c&rrently belie!ed to be linked with risks of l&ng) &terine) or pancreatic cancers. T#$ 1
R+,$ age 134
11. %lood press&re !ariations are associated with$ a. B17adrenergic receptors to increase heart rate b. The release of an antidi&retic hormone 'A( that increases water reabsorption c. The renin7angiotensin systemCs systemCs effect on !asoconstriction !asoco nstriction d. #er&m bradykinin) ca&sing !asodilation A"#$ /
#ignificant research is now foc&sed on specific componen ts that may infl&ence blood press&re !ariation) s&ch as the renin7angiotensin system 'in!ol!ed in sodi&m reabsorption and !asoconstriction(. The other options are not related to hypertension. T#$ 1
R+,$ age 13
1. The two most important risk factors for type diabetes are$ a. A&toantibodies and h&man le&kocyte antigen associations b. A&toantibodies and obesity c. 9besity and positi!e family history d. 2A associations and positi!e family history A"#$ /
The two most important risk factors for type diabetes are positi!e family history and obesity. The other options are not belie!ed to be important risk factors for this form of diabetes. T#$ 1
R+,$ ages 133713<
1. A ma*or characteristic of type 1 diabetes mellit&s is that there is$ a. artial ins&lin secretion c. Ins&lin resistance b. An a&toimm&ne ca&se factor d. 9besity as a common risk factor
A"#$ %
A strong association between type 1 diabetes and the presence of se!eral h&man le&kocyte antigen '2A( class II alleles indicate that type 1 diabetes mellit&s is an a&toimm&ne disease. The remaining options are associated with type diabetes. T#$ 1
R+,$ age 134
14. 9besity acts as an important risk factor for type diab etes mellit&s by$ a. Red&cing the amo&nt of ins&lin the pancreas prod&ces b. Increasing the resistance to ins&lin by cells c. 9bstr&cting the o&tflow of ins&lin from the pancreas d. #tim&lating the li!er to increase gl&cose prod&ction A"#$ %
eople with type diabetes mellit&s s&ffer from ins&lin resistance 'i.e.) their cells ha!e diffic<y &sing ins&lin(. The other options are not associated with the effect of obesity regarding ins&lin prod&ction. T#$ 1
R+,$ ages 133713<
1-. Traits ca&sed by the combined effects of m<iple genes are referred to by which term? a. olygenic c. >odifiable b. ><ifocal d. In!ol&ntary A"#$ A
Traits in which !ariation is tho&ght to be ca&sed by the combined effects of m<iple genes are polygenic) meaning many genes. genes. ><ifocal means relating to or arising from many points. >odifiable refers to the changeability of something. In!ol&ntary s&ggests being o&t of the control of someone or something. T#$ 1
R+,$ age 16-
16. Regarding type diabetes) obesity is considered to be what type of risk? a. Denetic c. Relati!e b. +mpirical d. >odifiable A"#$
9besity is a modifiable risk factor for many diseases incl&ding heart disease) stroke) hypertension) and type diabetes. diabe tes. The other terms do not apply. T#$ 1
R+,$ ages 133713<
13. 5hich disease form is identified on the basis of empirical risk obser!ation? a. olygenic c. >onoygotic b. ><ifactorial d. Denetic A"#$ %
,or most m<ifactorial diseases) empirical risks 'i.e.) risks based on direct obser!ation of data( ha!e been deri!ed. Traits Traits in which !ariation is tho&ght to be ca&sed by the combined effects of m<iple genes are polygenic. >onoygotic is a term that refers to identical twins. Denetic refers to iss&es related to genes and their infl&ence on the body.
T#$ 1
R+,$ age 163
1<. The n&mber of persons li!ing with a specific disease at a specific point in time is referred to
by which term? a. Relati!ity b. #&r!i!ability
c. re!alence d. Incidence
A"#$ /
The pre!alence rate is the proportion p roportion of the pop&lation affected by a disease at a specific point in time. Th&s both the incidence rate and the length of the s&r!i!al period in affected indi!id&als determine pre!alence. The description in the E&estion do es not relate to any of the other options. T#$ 1
R+,$ age 164
1=. 5hich type of cancer is said to aggregate among families? a. %reast c. #kin b. 2&ng d. %rain A"#$ A
%reast cancer appears to aggregate strongly in families. The other cancers are not belie!ed to be familial in nat&re. T#$ 1
R+,$ age 13
0. 5hich dietary lifestyle choice has been associated with a decreased risk for de!eloping colon
cancer? a. Increased cons&mption of dairy prod&ces b. Increased cons&mption of foods containing !itamin / c. ecreased cons&mption of foods high in fat d. ecreased cons&mption of artificial food coloring A"#$ /
A low7fat) low7fat) high7fiber diet is tho&ght to decrease the risk of colon cancer. T#$ 1
R+,$ age 16-
1. It is c&rrently belie!ed that the risk for de!eloping Alheimer disease$ a. Is not directly related to genetic predisposition. b. Is higher among men than it is among women. c. 9cc&rs less among ispanics than in Asians. d. o&bles among those with an affected first7degree relati!e. A"#$
The risk of de!eloping Alheimer disease do&bles in indi!id&als who ha!e an affected first7 degree relati!e. The other statements are not tr&e. T#$ 1
R+,$ age 13<
. The n&mber of new cases of a disease reported d&ring a specific period di!ided by the n&mber
of indi!id&als in the pop&lation is defined as which characteristic of a disease? a. re!alence rate c. Relati!e risk
b. Incidence rate
d. ,reE&ency
A"#$ %
The incidence rate is the n&mber of new cases of a disease reported d&ring a specific period 'typically 1 year( di!ided by the n&mber of indi!id&als in the pop&lation. The description pro!ided in the E&estion does not describe any of the other options. T#$ 1
R+,$ age 164
MULTIPLE "E#P!$#E
. /ancers that cl&ster strongly in families incl&de$ (Select all that apply.) a. %reast b. /olon c. 9!arian d. 2&ng e. %rain A"#$ A) %) %) /
Altho&gh breast) o!arian) and colon cancers ha!e shown a strong familial tendency) l&ng l&ng and brain cancers ha!e not. T#$ 1
R+,$ age 13
4. 5hich genes are responsible for an a&tosomal dominant form of breast cancer? (Select all that
apply.) a. LCAT b. CHK1 c. CHK2 d. BRCA1 e. BRCA2 A"#$ ) +
5omen 5omen who inherit a m&tation in BRCA1 in BRCA1 or BRCA2 or BRCA2 experience a -0: to <0: lifetime risk of de!eloping breast cancer. The other options do not carry this risk. T#$ 1
R+,$ age 134
-. 2ifestyle modifications that affect health7related risk factors incl&de$ (Select all that apply.) a. iet b. +xercise c. +d&cation d. ,inances e. #tress red&ction A"#$ A) %) %) +
2ifestyle modification 'e.g.) diet) exercise) stress red&ction( can often red&ce health risks significantly. +d&cation and finances ha!e not been shown to ha!e an effect on health in a way that in!ol!es lifestyle modifications. T#$ 1
R+,$ age 1<0
6. 5hat factors are typically considered when assessing an indi!id&alCs risk for de!eloping s&ch
common diseases as hypertension? (Select all that apply.) a. Age b. iet c. +xercise habits d. ,amily history e. #pirit&al beliefs A"#$ A"#$ A) %) %) /) /)
>any factors infl&ence the risk of acE&iring a common disease) s&ch as cancer) diabetes) or hypertension. These factors can incl&de age) gend er) diet) exercise) and family history of the disease. /&rrent research does not s&pport a connection between spirit&al beliefs and the de!elopment of hypertension. T#$ 1
R+,$ age 16-
3. +xamples of m<ifactorial diseases associated with ad<s incl&de$ (Select all that apply.) a. %reast cancer b. /oronary heart disease c. +mphysema d. iabetes mellit&s e. #chiophrenia A"#$ A"#$ A) %) %) ) ) +
><ifactorial diseases in ad<s incl&de coronary heart disease) hypertension) breast cancer) colon cancer) diabetes mellit&s) obesity) Alheimer Alheimer disease) alcoholism) schiophrenia) and bipolar affecti!e disorder. disorder. +mphysema is not considered m<ifactorial. m<ifactorial. T#$ 1
R+,$ ages 13171<0
M%TCI$G
Match the terms wth the c!rresp!ndng c!rresp!ndng descrpt!ns. FFFFFF A. Incidence rate effect effect of m<iple genes FFFFFF %. Dene7en!ironment interaction FFFFFF /. re!alence rate at which some diseases occ&r FFFFFF . 9besity FFFFFF +. olygenic FFFFFF ,. +mpirical risk FFFFFF D. Relati!e risk <. =. 0. 1. . . 4.
Traits ca&sed by the combined effects of m<iple genes "&mber of persons li!ing with the disease @ields @ields an increased risk for some diseases >odifiable risk factor for many diseases "&mber of new cases 'persons( detected with the disease >eas&re of the effect of a specific risk factor Risks based on direct obser!ation of data
<. A"#$ +
T#$ 1
R+,$ age 16-
=.
0.
1.
.
. 4.
>#/$ Traits in in which !ariation is tho&ght tho&ght to be ca&sed by the combined effects of m<iple genes are polygenic 'i.e.) many genes(. genes(. A"#$ / T#$ 1 R+,$ age 164 >#/$ The pre!alence rate is the the proportion of the pop&lation pop&lation affected by a disease at a specific point point in time. Th&s both the incidence rate and the length of the s&r!i!al period in affected indi!id&als determine pre!alence. A"#$ % T#$ 1 R+,$ age 131 >#/$ In some cases) a genetic predisposition predisposition may interact interact with an en!ironmental factor factor to increase the risk of disease to a significantly higher le!el than wo&ld either factor acting alone. A good example of a gene7en!ironment interaction is gi!en by 17antitrypsin deficiency) deficiency) a genetic genetic condition that ca&ses p&lmonary emphysema and is is greatly exacerbated by cigarette cigarette smoking 'see %ox -7(. -7(. A"#$ T#$ 1 R+,$ ages 133713< >#/$ 9besity is a modifiable risk risk factor for many many diseases incl&ding incl&ding heart disease) disease) stroke) hypertension) and type diabetes. A"#$ A T#$ 1 R+,$ age 164 >#/$ The incidence rate is the n&mber n&mber of new cases of a disease reported reported d&ring a specific period 'typically 1 year() di!ided by the n&mber of indi!id&als in the pop&lation. A"#$ D T#$ 1 R+,$ age 16>#/$ A common meas&re of the effect of a specific risk factor is the relati!e relati!e risk. A"#$ , T#$ 1 R+,$ age 163 >#/$ ,or most m<ifactorial m<ifactorial diseases) diseases) empirical risks 'i.e.) risks based on direct obser!ation obser!ation of data( data( ha!e been deri!ed.