_____
- is the incident rate of a disease among individuals exposed to a risk factor divided by the incidence rate of the disease among individuals not exposed to the risk factor
- many factors including _____, _____, _____, _____, and _____ of the disease can influence the risk
- -complex interactions occur among _____ and _____ factors; each factor can be quantified in terms of _____
relative risk age gender diet exercise family history genetic nongenetic relative risks
_____:
-traits caused by the combined effects of multiple genes
-focus is on the _____- usually many (poly) _____
_____:
-genetic and environmental or lifestyle factors cause the variations in traits
-additive effects of many _____ and _____ factors cause _____ traits
_____:
-are measured on a continuous numeric scale
-follow a normal bell curve for distribution
polygenic traits genes genes multifactorial traits genetic environmental multifactorial quantitative traits
_____
- is hard to determine in _____ diseases
- -number of _____ contributing to the disease is usually not known, precise _____ of parents is also not known, and the extent of environmental effects can vary substantially
- _____: is based on direct observation of data; is specific for each multifactorial disease
- recurrence risks of multifactorial diseases can substantially change because the _____, _____, and _____ factors can differ among population
- recurrence risk become _____ if more than one family member is affected
- if the expression of the disease in the proband is more severe, then the recurrence risk is _____
- if the proband is of the less commonly affected sex, then the recurrence risk is _____
- recurrence risk for the disease usually _____ rapidly in remotely related relatives
recurrence risks multifactorial genes allelic constitution empirical risks gene frequencies environment lifestyle higher higher higher decreases
QUESTION 1
recurrence risk in multifactorial diseases is:
1. rapidly increased when more distant relatives are affected
2. lower if the disease is more severe in the proband
3. higher if the proband is the more commonly affected sex
4. higher if more than one family member is affected
4
nature and nurture: disentangling the effects of genes and environment
- adoption studies
- -children born to parents who have a disease but are then subsequently adopted by parents lacking the disease are studied for _____
- -a preliminary indication of the extent to which _____ may cause a multifactorial disease is provided
- _____
- -a genetic predisposition may interact with an environmental factor to _____ the risk for a disease to be a much higher level than either factor would alone
disease recurrence
genetic factors
gene-environment interaction
increase
genetics of common diseases
_____:
-congenital diseases are present at _____
-most congenital diseases are _____
-_____ can cause congenital malformations
-having other disorders along with congenital disease is _____
congenital malformations birth multifactorial environmental factors common
Name the 9 multifactorial diseases in adults
CHD hypertension breast cancer colon cancer diabetes mellitus obesity Alzheimer disease alcoholism schizophrenia and bipolar affective disorder
MULTIFACTORIAL DISORDERS IN THE ADULT POP
Coronary heart disease
-potential _____ caused by _____ in the _____ supplying blood to the heart
-potential _____ caused by _____ in the arteries supplying blood to the brain
-risk increases if:
-more _____ exist
-affected relatives are _____ rather than _____
-age of onset is younger than _____ years
-_____, _____, _____, _____, _____, increase risk
myocardial infarction atherosclerosis arteries cerebrovascular accident (stroke) atherosclerosis affected relatives female male 55 autosomal dominant familial hypercholesterolemia high-fat diet lack of exercise smoking obesity increase risk
MULTIFACTORIAL DISORDERS IN THE ADULT POP
hypertension
-is a risk factor for _____, _____, and _____
-between _____ and _____ of blood pressure variations are genetic, which means that _____ are important
-important environmental factors include _____ intake, lack of _____, _____ and _____
-blood pressure regulation is complex
–research that focuses on individual components for gene involvement include _____, _____ and _____
heart disease stroke kidney disease 20% 40% environmental factors sodium exercise stress obesity renin-angiotensin system nitric oxide kallikrein-kinin system
MULTIFACTORIAL DISORDERS IN THE ADULT POP
cancer
-is the _____ leading cause of death in the US
-many major cancers occur in _____
-_____ and _____ choices increase the risk for cancer
–_____ use accounts for _____ of all cancers
second families environmental lifestyle tobacco one third
breast cancer
- affects _____ of american women who live to _____ years of age
- if a women has a first-degree relative with breast cancer, then her risk _____
- recurrence risk _____ if the age of onset in the affected relative is early and if the cancer is _____
- an _____ form (5%) has been linked to chromosomes _____ and chromosomes _____
- -this form causes a _____ to _____ lifetime risk of developing breast cancer and increases the risk of _____
- other genes are implicated
12% 85 doubles increases bilateral autosomal dominant 13 (BRCA2) 17 (BRCA1) 50% 80% ovarian cancer
QUESTION 2
which statement made by the nurse indicates an accurate understanding of breast cancer
1. BRCA1 id on chromosome 13
2. if a woman has one affected first-degree relative then her risk of developing breast cancer triples
3. alterations in the kallikrein-kinin system increases the risk for breast cancer
4. women who inherit a mutation in BRCA2 experience a 50% to 80% lifetime risk of developing breast cancer
4.
BRCA1 or BRCA2
- women who inherit a mutation in BRCA1 or BRCA2 experience a _____ to _____ lifetime risk of developing _____
- genes responsible for this form of breast cancer have been mapped to chromosomes _____ (BRCA1) and _____ (BRCA2)
- if a woman has one affected first-degree relative, her risk of developing breast cancer _____
50% 80% breast cancer 17 13 doubles
MULTIFACTORIAL DISORDERS IN THE ADULT POPULATION
colorectal cancer
-is _____ only to lung cancer in the number of cases occurring annually in the US
-the risk is _____ to _____ times higher than the general population in those with one affected first degree relative
-clusters in families
-_____ gene mutations play a vital role in familial adenomatous polyposis
-_____ are involved in common colon cancers
-mutations in any of _____ genes cause hereditary _____
-environmental factors include a _____ diet
second two three inherited adenomatous polyposis coli (APC) somatic mutations six nonpolyposis colorectal cancer high-fat, low-fiber
TYPE 1 and 2 DIABETES
- type 1 diabetes is characterized by destruction of _____ and reduction/absence of _____
- type 2 diabetes produces _____; cells have difficulty using the _____ thats produced
pancreatic beta cells
insulin
insulin resistance
insulin
MULTIFACTORIAL DISORDERS IN THE ADULT POP
diabetes mellitus
-is complex and not fully understood
-is the leading cause of _____, _____, and _____
-two major types
–type 1 (_____)
–type 2 (_____)
blindness heart disease kidney failure insulin-dependent diabetes mellitus non-insulin-dependent diabetes mellitus
MULTIFACTORIAL DISORDERS IN THE ADULT POP
type 1 diabetes
-is caused by the _____ destruction of _____ in the pancreas
–_____ activation and _____ production
-individuals with type 1 diabetes need _____ for life
-siblings of individuals with type 1 diabetes face a substantial _____ in risk
-incidence is higher in the offspring of diabetic _____
-association of specific _____ class _____ alleles is _____
-_____: genetic variation here is associated with a 10% increased risk
-other genes are also implicated
autoimmune insulin-producing beta cells T cell autoantibody insulin elevation fathers human leukocyte antigen (HLA) II 40% insulin gene
MULTIFACTORIAL DISORDERS IN THE ADULT POP
type 2 diabetes
-more then _____ of all individuals with diabetes have type 2
-neither _____ nor _____ are present
-_____ is present or _____ is diminished
-risk factors include _____ and a positive _____
–_____ has a preventative effect
-recurrence risk
–_____ twins have a 90% risk
–first-degree relatives have a _____ to _____ risk
-genes:
–variant of _____ is associated with a _____ increased risk
–other genes: _____ and _____ are associated with increased risk
-_____ gene is associated with maturity-onset diabetes of the young
90% HLA autoantibodies insulin resistance insulin production obesity family history exercise MZ 15% 40% TCF7L2 50% PPAR-y KCNJ11 glucokinase
QUESTION 4
type 2 diabetes:
1. is highly correlated with reduced body mass index (BMI)
2. is caused by an absence of insulin
3. usually involves a gene identified as HLA
4. is often treated with lifestyle modification, including diet and exercise
4.
Regarding type 2 diabetes, obesity is considered to be what type of risk?
a. genetic
b. empirical
c. relative
d. modifiable
d.
type II diabetes
- often treated with lifestyle modification including _____ and _____
- this type of diabetes is highly associated with increased _____ and _____, thus weight loss is one goal of therapy
- dietary modifications can aid weight loss and reduce total _____ load
- type 2 diabetes is highly associated with _____ and increase in _____
diet exercise BMI obesity glucose obesity BMI
MULTIFACTORIAL DISORDERS IN THE ADULT POP
obesity
-is a BMI _____ than _____
-BMI = _____ in kg (W) divided by _____ in meters squared (H^2)
-presents a substantial risk factor for _____, _____, _____, and _____
-gene for _____ and its receptors are related to obesity
greater 30 weight height heart disease stroke hypertension type 2 diabetes leptin
MULTIFACTORIAL DISORDERS IN THE ADULT POP
alzheimer disease
-results in progressive _____ and loss of _____
-produces _____ plaques and _____ tangles
-risk _____ if first-degree relative has AD
-mutations for early-onset affect _____ deposition
–_____, _____, and _____ which is the primary cause of AD
-mutations for late onset AD
–allelic variation (_____, _____, and _____) in _____
–one copy of the E4 allele: at least _____ to _____ times at greater risk
–two copies of the E4 allele: at least _____ to _____ times more likely to develop AD
dementia memory amyloid neurofibrillary doubles amyloid beta deposition presenilin 1 (PS1) presenilin 2 (PS2) amyloid beta precursor protein (APP) gene E2 E3 and E4 apolipoprotien E (APOE) two five five ten
MULTIFACTORIAL DISORDERS IN THE ADULT POP
alcoholism
-risk is _____ to _____ times higher in the individual with an alcoholic parent
-adoption studies:
-offspring of an alcoholic parent, even when raised by nonalcoholic parents, have a _____ increased risk
-offspring of nonalcoholic parents, when reared by alcoholic parents did not have an _____ risk
-twin studies: MZ and DZ pairs have a _____ and _____, respectively, increased risk
-genes:
-individuals with _____ allele are much less likely to become alcoholics
-allelic variation of _____ receptors increase the risk
three five fourfold increased >60% <30% ALDH2*2 gamma-aminobutyric acid (GABA)
