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NURS 500 Patho Ch 5

Patho 500 Genes, Environment and Common Disease

disease in populations - incidence rate Number of new cases of a disease reported during a specific period (typically 1 year) divided by the number of individuals in the population
disease in populations - prevalence rate Proportion of the population affected by a disease at a specific point in time
Risk factors - relative risk Incidence rate of a disease among individuals exposed to a risk factor divided by the incidence rate of a disease among individuals not exposed to a risk factor
multifactorial inheritance - polygenic variation in traits caused by the effects of multiple genes
multifactorial inheritance - multifactorial trait variation in traits caused by genetic and env/lifestyle factors
quantitative traits traits measured on continuous numeric scale
multifactorial inheritance - threshold model, see slide 6 for image liability distribution - threshold of liability
Characteristics of multifactorial disorders - result from hereditary and env factors. Which component is polygenic Hereditary component is polygenic Individual involved genes follow mendelian principles Many genes act together to influence the expressed trait
multifactorial inheritance - concordance expression of the disease in 2 related family members
multifactorial inheritance - discordance expression of the disease in one family member, but not a second
Multifactorial inheritance - twin studies and concordance Genetic conditions Monozygotic (MZ) twins: 100% concordance Dizygotic (DZ) twins: less than 100% and similar to that among other siblings
multifactorial inheritance - env conditions Equal concordance rates among MZ and DZ twins
multifactorial inheritance - multifactorial conditions MZ twins with greater concordance than DZ twins, but rates are not 100%
multifactorial inheritance - adoption studies gene-env-lifestyle interaction
Recurrence risks Recurrence risks of multifactorial diseases can change substantially because gene frequencies as well as environment and lifestyle factors can differ among populations
recurrence risk becomes higher if more than 1 family member is affected---if expression of disease in proband is more sever, recurrence risk is higher Recurrence risk is higher if the proband is of the less commonly affected sex Recurrence risk for the disease usually decreases rapidly in remotely related relatives
nature and nurture considers genetics = nature----nurture = env/lifestyle
nature/nurture - concordant trait both members of a twin share a trait
nature/nurture - discordant trait a twin pair does not share a trait
nature/nurture - adoption studies Children born to parents who have a disease but are then subsequently adopted by parents lacking the disease are studied for the recurrence of the disease
genetics of common diseases - congenital malformations Congenital diseases are present at birth or shortly after birth Most congenital diseases are multifactorial
adult multifactorial diseases - coronary heart disease Potential mycocardial infarction caused by atherosclerosis
CAD risk increases if There are more affected relatives Affected relatives are female rather than male Age of onset is younger than 55 years
CAD autosomal dominant familial factors Autosomal dominant familial hypercholesterolemia, high-fat diet, lack of exercise, smoking, and obesity
Familial hypercholesterolemia is autosomal dominant with these characteristics 1 in 500 is heterozygous for FH gene; 1 in 1 million is homozygous for the trait Serum cholesterol 300 to 400 mg/dl in heterozygote; 600 to 1200 mg/dl in homozygote Cholesterol deposits in arteries and skin (xanthomas)
familial hypercholesterolemia see slide 18 for image
HTN is a risk factor for heart dx, stroke & kidney dx---with these characteristics 20% to 40% of blood pressure variations are genetic; this means that 60% to 80% are environmental Causes of hypertension Sodium intake, lack of exercise, stress, obesity, smoking, and high-fat intake
Breast cancer affects 12% American women who live to 85 with these fun facts If a woman has a first-degree relative with breast cancer, her risk doubles Recurrence risk increases if age of onset in the affected relative is early and if the cancer is bilateral
more breast cancer fun facts An autosomal dominant form (5%) has been linked to chromosomes 13 and 17 Other genes are implicated
colorectal cancer will be experienced by 1 in 20 americans and is SECOND only to lung cancer with these risk factors Genetics High-fat and low-fiber diet are contributors
diabetes is a leading cause of blindness, heart disease and kidney failure Two major types Type 1 (insulin-dependent diabetes mellitus) Type 2 (non–insulin-dependent diabetes mellitus)
Type 1 Diabetes is autoimmune with destruction of Bcells in pancrease bwo Tcell activation and autoantibody production with these genetics Onset before 40 years of age Higher incidence with offspring of diabetic fathers Recurrence risk 0.55 MZ twin concordance rate 1% to 6% sibling recurrence
Type 2 Diabetes represents 80-90% of all diabetic cases and has neither HLA nor autoantibodies seen in type 2 --- with these risk factors Person has insulin resistance or diminished insulin production Risk factors High carbohydrate diet and obesity Recurrence risk 0.90 MZ twin concordance rate 10% to 15% sibling recurrence
obesity has BMI > 30 with these genetic factors Adoptive studies Body weights of adopted individuals correlated significantly with their natural parents’ body weights Twin studies Higher concordance in MZ twins than DZ twins
Alzheimer's risk DOUBLES in individuals who have affected first-degree relative Mutations in any of three genes that affect amyloid-beta deposition Presenilin 1 (PS1) Presenilin 2 (PS2) Amyloid-beta precursor protein gene (APP)
Alcoholism - risk is 3-5 TIMES HIGHER in inv with alcoholic parent and these genetic facts Adoption studies Offspring of nonalcoholic parents, when reared by alcoholic parents, did not have an increased risk Twin studies Concordance rates MZ: >60% DZ: <30%
schizophrenia genetics Recurrence risk among the offspring of one affected parent is 10 times higher than the general population Twin and adoption studies indicate that genetic factors are likely to be involved
bipolar affective disorder Genetics Minimal environmental influence
Created by: lorrelaws