Patho 500 Genes, Environment and Common Disease
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| 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
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| disease in populations - prevalence rate | Proportion of the population affected by a disease at a specific point in time
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| 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
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| multifactorial inheritance - polygenic | variation in traits caused by the effects of multiple genes
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| multifactorial inheritance - multifactorial trait | variation in traits caused by genetic and env/lifestyle factors
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| quantitative traits | traits measured on continuous numeric scale
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| multifactorial inheritance - threshold model, see slide 6 for image | liability distribution - threshold of liability
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| 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
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| multifactorial inheritance - concordance | expression of the disease in 2 related family members
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| multifactorial inheritance - discordance | expression of the disease in one family member, but not a second
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| 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
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| multifactorial inheritance - env conditions | Equal concordance rates among MZ and DZ twins
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| multifactorial inheritance - multifactorial conditions | MZ twins with greater concordance than DZ twins, but rates are not 100%
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| multifactorial inheritance - adoption studies | gene-env-lifestyle interaction
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| Recurrence risks | Recurrence risks of multifactorial diseases can change substantially because gene frequencies as well as environment and lifestyle factors can differ among populations
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| 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
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| nature and nurture considers | genetics = nature----nurture = env/lifestyle
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| nature/nurture - concordant trait | both members of a twin share a trait
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| nature/nurture - discordant trait | a twin pair does not share a trait
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| 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
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| genetics of common diseases - congenital malformations | Congenital diseases are present at birth or shortly after birth
Most congenital diseases are multifactorial
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| adult multifactorial diseases - coronary heart disease | Potential mycocardial infarction caused by atherosclerosis
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| CAD risk increases if | There are more affected relatives
Affected relatives are female rather than male
Age of onset is younger than 55 years
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| CAD autosomal dominant familial factors | Autosomal dominant familial hypercholesterolemia, high-fat diet, lack of exercise, smoking, and obesity
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| 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)
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| familial hypercholesterolemia | see slide 18 for image
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| 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
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| 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
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| more breast cancer fun facts | An autosomal dominant form (5%) has been linked to chromosomes 13 and 17
Other genes are implicated
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| 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
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| 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)
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| 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
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| 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
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| 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
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| 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)
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| 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%
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| 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
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| bipolar affective disorder | Genetics
Minimal environmental influence
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