2.3 Public Health and Disease Epidemiology

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Questions and Answers

What does the incidence rate of a disease specifically measure?

  • The number of new cases of a disease reported during a specific time period. (correct)
  • The total number of people affected by a disease at a specific point in time.
  • The proportion of a population affected by a disease.
  • The number of deaths caused by the disease in a specific time period.

Which of the following best describes the relationship between prevalence and incidence rates?

  • Prevalence rate is usually lower than the incidence rate.
  • Prevalence rate is usually higher than the incidence rate. (correct)
  • Prevalence rate is usually the same as the incidence rate.
  • Prevalence rate is not related to the incidence rate.

What does a relative risk value of 24 for lung cancer in heavy smokers, compared to non-smokers indicate?

  • Smokers have a 24% chance of developing lung cancer, and non-smokers do not.
  • The number of people who develop lung cancer is 24 times higher in smokers compared to non smokers.
  • The rate of lung cancer death is 24 times higher in heavy smokers compared to non-smokers. (correct)
  • The risk of lung cancer is 24 times lower for heavy smokers.

If a disease is common in one population but rare in another, what is most suggested by this?

<p>The disease is likely influenced by a combination of environmental factors and lifestyle. (C)</p> Signup and view all the answers

If the rates of stomach cancer have decreased among Japanese immigrants in the US, and colon cancer rates have increased, what does this suggest?

<p>Environmental factors significantly impact the incidence of both types of cancer. (C)</p> Signup and view all the answers

A disease is observed to have a higher prevalence rate than incidence rate. What can be inferred from this observation?

<p>The disease is usually a chronic one, which people live with for years. (D)</p> Signup and view all the answers

When determining the risk of a disease, what role do genes play in the context of exposure to tobacco smoke?

<p>Variants in genes that are involved in the metabolism of tobacco smoke can increase or decrease the individual's risk of disease. (A)</p> Signup and view all the answers

Which of the following is NOT considered a lifestyle-related risk factor for disease?

<p>Family history (A)</p> Signup and view all the answers

What is the primary risk factor associated with obesity?

<p>Dietary habits (B), Environmental factors (C), Lack of physical activity (D)</p> Signup and view all the answers

Which condition is characterized by progressive dementia and memory loss?

<p>Alzheimer's disease (C)</p> Signup and view all the answers

What percentage of the population over 65 is affected by Alzheimer's disease?

<p>5 to 10 percent (B)</p> Signup and view all the answers

What is the concordance rate for monozygotic twins with a history of alcoholism?

<p>In excess of 60 percent (A)</p> Signup and view all the answers

Which disorder is known for having a recurrence risk of 8 to 10 percent if one parent is affected?

<p>Schizophrenia (B)</p> Signup and view all the answers

What factor is primarily associated with early onset alcoholism?

<p>Genetic inheritance (D)</p> Signup and view all the answers

What is the likelihood of developing schizophrenia when both parents are affected?

<p>50 percent (B)</p> Signup and view all the answers

Which condition has a concordance rate of approximately 40 percent in monozygotic twins?

<p>Schizophrenia (B)</p> Signup and view all the answers

What is a significant environmental factor that can affect the development of psychological disorders?

<p>Lifestyle choices (B)</p> Signup and view all the answers

What genetic factor has been found to influence susceptibility to alcohol addiction?

<p>GABA receptor genes (C)</p> Signup and view all the answers

Which one of the following is NOT typically associated with Alzheimer's disease?

<p>Bipolar moods (C)</p> Signup and view all the answers

Which psychological disorder has the general population affected rate of about 0.5 percent?

<p>Bipolar disorder (A)</p> Signup and view all the answers

What typically indicates a higher genetic influence on a disorder?

<p>Earlier age of onset (C)</p> Signup and view all the answers

What component is essential in reducing risks for genetic disorders?

<p>Environmental manipulation (C)</p> Signup and view all the answers

What is a defining characteristic of multifactorial inheritance?

<p>It involves the combined effects of multiple genes and environmental factors. (B)</p> Signup and view all the answers

Which of the following statements about twin studies is true?

<p>Concordance rates for diseases can indicate genetic influence. (A)</p> Signup and view all the answers

What is the recurrence risk for multifactorial diseases compared to single gene diseases?

<p>It is typically higher when more family members are affected. (A)</p> Signup and view all the answers

How do dizygotic twins differ from monozygotic twins genetically?

<p>Dizygotic twins are genetically different from each other. (A)</p> Signup and view all the answers

What does a higher concordance rate in monozygotic twins suggest about a trait?

<p>The trait has a strong genetic component. (A)</p> Signup and view all the answers

In the context of multifactorial traits, what is the significance of environmental factors?

<p>They can modify the expression of a polygenic trait. (D)</p> Signup and view all the answers

What happens to the recurrence risk for multifactorial diseases in more distant relatives?

<p>It decreases quickly compared to single gene diseases. (A)</p> Signup and view all the answers

What was the historical view of twin studies as research tools?

<p>They were considered perfect without environmental concerns. (C)</p> Signup and view all the answers

Why might monozygotic twins show discordance for certain traits?

<p>Environmental factors play a significant role. (B)</p> Signup and view all the answers

What does a study reveal if adopted children of parents with a disease develop that disease more often than the control population?

<p>It provides evidence that genetic factors may contribute to that disease. (A)</p> Signup and view all the answers

What common misconception exists about monozygotic twins?

<p>They exhibit more variations due to environmental differences. (A)</p> Signup and view all the answers

In multifactorial diseases like diabetes, what type of conditions are influenced by the combination of genetic and environmental factors?

<p>Multiple adult diseases and conditions. (A)</p> Signup and view all the answers

What does the threshold of liability concept refer to in multifactorial diseases?

<p>The genetic threshold required for disease to manifest. (D)</p> Signup and view all the answers

What is a major influence in the expression of traits like blood pressure?

<p>Both genetic inheritance and lifestyle choices. (B)</p> Signup and view all the answers

What is the risk increase for an individual with a positive family history of coronary heart disease?

<p>2 to 7 times more likely (C)</p> Signup and view all the answers

What is the main contributor to the development of Type 1 diabetes?

<p>Autoimmune response (C)</p> Signup and view all the answers

Which factor is least likely to increase the risk of developing coronary heart disease?

<p>Exercise (C)</p> Signup and view all the answers

What percentage of breast cancer cases is accounted for by BRCA1 and BRCA2 mutations?

<p>5 to 10 percent (D)</p> Signup and view all the answers

Which of the following is a key risk factor for Type 2 diabetes?

<p>Positive family history (C)</p> Signup and view all the answers

Which condition is associated with a 20 to 50 percent lifetime risk due to a BRCA1 mutation?

<p>Ovarian cancer (C)</p> Signup and view all the answers

Environmental factors play an important role in the development of which disease?

<p>Coronary heart disease (B)</p> Signup and view all the answers

What is a characteristic of Type 2 diabetes?

<p>Insulin resistance (B)</p> Signup and view all the answers

For colorectal cancer, what is the effect of having one affected first-degree relative?

<p>Risk increases two to three times (D)</p> Signup and view all the answers

What is the concordance rate for identical twins with Type 1 diabetes?

<p>30 to 50 percent (A)</p> Signup and view all the answers

Congenital malformations can be considered multifactorial disorders that are:

<p>Present at birth (A)</p> Signup and view all the answers

What is a significant environmental risk factor for hypertension?

<p>Sedentary lifestyle (A)</p> Signup and view all the answers

What is the lifetime breast cancer risk for women with a BRCA2 mutation?

<p>50 to 80 percent (D)</p> Signup and view all the answers

What is the prevalence range of hypertension worldwide?

<p>25 to 30 percent (A)</p> Signup and view all the answers

Flashcards

Incidence Rate

The number of new cases of a disease reported during a specific period (typically a year).

Prevalence Rate

The proportion of a population affected by a disease at a specific point in time.

Relative Risk

The increased rate of disease among individuals exposed to a specific risk factor compared to those not exposed.

Risk Factors

Factors that increase the likelihood of developing a disease. They can be genetic or lifestyle-related.

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Epidemiology

The study of disease in populations. It analyzes how diseases spread, their causes, and prevention strategies.

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Disease Frequency Changes

A change in the frequency of a disease in a population.

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Genetic Predisposition

Genetic variants can influence an individual's susceptibility to diseases.

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Lifestyle Factors and Disease

Lifestyle choices, such as diet and exercise, can significantly impact disease risk.

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Multifactorial Inheritance

Traits influenced by multiple genes and environmental factors.

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Polygenic Trait

Multiple genes contribute to a trait, resulting in a wider range of possibilities.

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Recurrence Risk

The likelihood of a trait appearing in offspring.

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Threshold of Liability

The point at which a genetic predisposition leads to a disease.

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Monozygotic Twins

Identical twins formed when a single fertilized egg splits.

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Dizygotic Twins

Twins formed from two separate fertilized eggs.

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Concordant Twins

Both twins share a specific trait.

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Discordant Twins

Twins do not share a specific trait.

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Twin Studies

Studies comparing identical and fraternal twins to understand genetic and environmental influences.

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Adoption Studies

Children adopted by parents without a specific disease are studied.

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Familial Aggregation

The tendency for a disease to occur more often in close relatives.

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Empirical Risk

The observation of a disease occurring more frequently than expected by chance.

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Increased Familial Risk

A higher recurrence risk when more family members are affected by a multifactorial disease.

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Severity of Expression

Recurrence risk is higher when the expression of a disease is more severe.

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Rapid Risk Reduction

Recurrence risk decreases rapidly in more distant relatives for multifactorial diseases.

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Overweight

A condition characterized by a Body Mass Index (BMI) greater than 25.

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Obesity

A condition characterized by a Body Mass Index (BMI) greater than 30, indicating excess body fat.

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Alzheimer's Disease

A progressive brain disease characterized by dementia and memory loss. It also includes the formation of amyloid plaques and neurofibrillary tangles in the brain.

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Alcoholism

A condition characterized by excessive alcohol consumption, leading to significant problems in various aspects of life.

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ADHD (Attention-Deficit/Hyperactivity Disorder)

A neurodevelopmental disorder characterized by inattentiveness, hyperactivity, and impulsivity.

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Family History and Heart Disease

The chance of developing heart disease is significantly higher for individuals with a family history of the condition.

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Schizophrenia

A severe mental disorder characterized by hallucinations, delusions, disorganized thinking, and social withdrawal.

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Risk Factors for Heart Disease

Factors like obesity, smoking, high blood pressure, high cholesterol, and a family history of heart disease increase the risk of developing heart disease.

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Bipolar Disorder (manic depressive disorder)

A mood disorder characterized by extreme mood swings, ranging from periods of mania (high energy) to depression.

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Lifestyle Factors and Heart Disease

Exercise and a diet low in saturated fats can decrease the risk of developing heart disease, even for individuals with a family history.

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Case-Control Studies

A study design where researchers observe individuals with a specific condition and compare them to a control group without the condition. In this way, they can examine the impact of genetic factors on different traits.

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Cohort Studies

A study design where researchers follow a group of individuals over time to observe the development of a specific condition. This helps understand how genetic and environmental factors influence the onset of the disease.

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Hypertension

Hypertension, also known as high blood pressure, affects 25-30% of the population globally and is a significant risk factor for heart disease, stroke, and kidney disease. Genetics contributes to 20-40% of the variation in blood pressure, indicating that environmental factors are also crucial.

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Penetrance

The likelihood that individuals with a specific genetic predisposition will also develop the associated condition.

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Cancer and Family History

Cancer, the second leading cause of death in the US, is often clustered within families due to shared genetic and environmental factors.

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Familial Correlation

The degree to which biological relatives share traits.

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Tobacco Use and Cancer

Tobacco use is a major contributor to cancer, accounting for about one-third of all cancer cases in the US.

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Breast Cancer Family History

Breast cancer, the most common cancer among women, shows a strong family correlation. Having a first-degree relative with breast cancer doubles the risk, and the risk is further heightened if the relative developed the condition at a young age or with bilateral cancer.

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BRCA Genes and Cancer Risk

BRCA1 and BRCA2 genes are associated with an autosomal dominant form of breast cancer, accounting for 5-10% of cases in the US. Inheriting a mutation in these genes significantly increases the lifetime risk of developing breast cancer and ovarian cancer.

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Early Onset

The tendency for complex disorders to manifest earlier in life and be more severe in individuals with inherited genetic predisposition.

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Type 1 Diabetes

Type 1 diabetes, an autoimmune disorder, is characterized by the immune system attacking pancreatic cells. The risk is significantly increased if a close relative has the condition.

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Familial Predisposition

The phenomenon where individuals with a family history of a disease are more likely to develop the disease early in life.

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Type 2 Diabetes

Type 2 diabetes is characterized by insulin resistance and accounts for 90% of all diabetes cases. While genetics plays a role, it is often influenced by lifestyle factors such as obesity and diet.

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Exercise and Type 2 Diabetes

Obesity increases insulin resistance, raising the risk of developing type 2 diabetes. Exercise can significantly lower the risk of developing type 2 diabetes, even with a family history, as it improves insulin sensitivity and glucose tolerance.

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Obesity Definition

Obesity is defined as having a BMI greater than 30.

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Twin Studies and Disease

Identical twins, despite sharing the same genes, don't always develop the same diseases, indicating that environment plays a significant role in disease development.

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Study Notes

Incidence and Prevalence of Diseases

  • Incidence rate: Number of new disease cases in a specific period (typically one year).
  • Prevalence rate: Proportion of a population affected by a disease at a specific time. Prevalence is usually higher than incidence. Factors like disease survival duration affect the comparison.

Risk Factors

  • Relative risk: Increased disease rate among exposed individuals compared to unexposed individuals. Calculated as (exposed/unexposed)
  • Example: Lung cancer study showed a 24-fold increased risk of death for heavy smokers compared to non-smokers.
  • Risk factors can be genetic (e.g., genes involved in tobacco metabolism) or lifestyle-related (e.g., age, gender, diet, exercise, family history).

Multifactorial Inheritance

  • Multifactorial traits: Variation caused by combined effects of multiple genes and environmental factors.
  • Examples: Height, blood pressure, many adult diseases (e.g., hypertension, heart disease, diabetes, some cancers).
  • Threshold of liability: Diseases where presence or absence is determined by multiple genes and environmental variables. This sometimes presents a distinct threshold where disease develops. Examples include pyloric stenosis, where rates differ by sex.

Recurrence Risk and Transmission

  • Recurrence risk increases if multiple family members are affected.
  • Recurrence risk is influenced by severity of the disease in affected family members.
  • Risk is higher if less commonly affected sex is affected.
  • Recurrence risk decreases more rapidly for multifactorial diseases compared to single-gene diseases as you move further out in family relationships.

Twin and Adoption Studies

  • Twin studies help separate genetic and environmental factors in disease risk.
  • Monozygotic (identical) twins share identical genes; differences in their traits are due to environmental factors.
  • Dizygotic (fraternal) twins share similar environmental factors but have different genes, similar to siblings.
  • Concordance rate: Percentage of twin pairs where both members share a trait.
  • Adoption studies: Examine whether children adopted to households without a disease develop the disease. Evidence is that similar genetic effects are seen compared with the biological parent who developed the disease.

Common Diseases with Genetic and Environmental Factors

  • Diseases like heart disease, cancer, diabetes, and others, are a combination of genetic and environmental factors.
  • Genetic susceptibilities may be heightened risk factors as opposed to being necessarily causational of the disease.
  • Lifestyle factors (diet, exercise) can drastically influence disease risk.
  • Examples of Multifactorial Diseases:
    • Heart disease
    • Cancer (various types)
    • Diabetes (Type 1 and Type 2)
    • Obesity (familial component but environmental impact is key)
    • Alzheimer's disease
    • Alcoholism
    • Schizophrenia
    • Bipolar disorder

Specific Disease Details

  • Heart disease: Leading killer in the US; risk factors include obesity, smoking, hypertension, high cholesterol, and family history (2-7x increased risk if a first-degree relative is affected)

  • Cancer: Genetic and environmental factors are involved; tobacco use is a significant factor (1/3 of cases). Specific cancers:

    • Breast cancer: Common in women, risk doubled with an affected first-degree relative. BRCA1/2 genes increase risk.
    • Colorectal cancer: Second most deadly cancer. Risk 2-3 times higher in affected first-degree relatives.
    • Prostate cancer: Second most common cancer in men. Risk 2-3 times higher.
  • Type 1 diabetes: Autoimmune disorder (genetic or environmental trigger?).

  • Type 2 diabetes: Insulin resistance, common in obese individuals; risk influenced by family history and obesity.

  • Alzheimer's disease is a progressive disorder and is characterized by genetic and environmental interplay; genetics is most prominent in early cases. Risk increases with older age and first-degree family history.

  • Alcoholism has both genetic and environmental components. Some genes affect alcohol metabolism. Risk increased in blood relatives.

  • Schizophrenia has a strong genetic component; risk significantly higher in relatives with schizophrenia.

  • Bipolar disorder is influenced by both genetics and environment. Risk increases with affected first-degree relatives.

Further Considerations

  • Identifying specific genetic factors related to diseases can lead to better preventive measures and treatment strategies.
  • Lifestyle modifications (diet, exercise, stress reduction) are key for reducing the risk of many diseases, especially for individuals with a genetic predisposition.

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