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Introduction to Molecular Epidemiology. Jan Dorman, PhD University of Pittsburgh School of Nursing Science Medicine. Society Epidemiology. Revolution in Molecular Biology has Impacted:. Molecular Epidemiology Challenge for the 21st Century. Molecular Epidemiology .

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introduction to molecular epidemiology

Introduction to Molecular Epidemiology

Jan Dorman, PhD

University of Pittsburgh

School of Nursing

revolution in molecular biology has impacted




Revolution in Molecular Biology has Impacted:

Molecular Epidemiology

Challenge for the 21st Century

molecular epidemiology
Molecular Epidemiology
  • Will facilitate the ability of scientists to conduct etiologic research
  • Will increase our knowledge about the determinants of disease
  • Will contribute to the development of approaches for disease prevention
  • Will improve public health
genetic epidemiology
Genetic Epidemiology

A science that deals with etiology, distribution and control of disease in families and with inherited causes of diseases in populations

N Morton

genetic epidemiology5
Genetic Epidemiology
  • Is based on population genetics
  • Utilizes statistical techniques to evaluate the genetic aspects of chronic diseases
  • Little or no emphasis on environmental risk factors
genetic epidemiology6
Genetic Epidemiology

Includes the fundamental interaction between genetic variation with the environment in the occurrence of disease

M Khoury

genetic epidemiology7
Genetic Epidemiology
  • Many studies are still focused on the identification ofdisease susceptibility genes
    • New SNP and haplotype maps
    • New approaches to linkage analysis

- High through-put molecular techniques

genetic epidemiology9
Genetic Epidemiology

Results are not generalizable to the population at large

Requires Molecular Epidemiology

origins of molecular epidemiology
Origins of Molecular Epidemiology

Descriptive and Analytical Epidemiology

Infectious Diseases


molecular cancer epidemiology
Molecular Cancer Epidemiology

An approach in which advanced laboratory methods are used with analytical epidemiology to identify, at the biochemical or molecular level, specific exogenous agents and / or host factors that play a role in human cancer causation

F. Perera

traditional cancer epidemiology
Traditional Cancer Epidemiology



Black Box

Effects of

environmental exposures

molecular cancer epidemiology13
Molecular Cancer Epidemiology

Use of biological markers to examine parts of a continuum between an initiating event and the development of disease



Inside the Black Box

molecular epidemiology14
Molecular Epidemiology






Black Box

molecular epidemiology15
Molecular Epidemiology

A science that deals with the contribution of genetic and environ-mental risk factors identified at the molecular and biochemical level, to the etiology, distribution and control of disease in families and populations

J. Dorman

molecular epidemiology16
Molecular Epidemiology
  • Dissolved boundaries between traditional epidemiology and:
    • Human genetics
    • Molecular genetics
    • Molecular biology
  • Requires decisions about collecting, processing and storing biological specimens
molecular epidemiology17
Molecular Epidemiology
  • Requires consideration of standardization, analytical validityand clinical validity of molecular tests
  • Utilizes family study designs, as well as case-control and cohort studies
molecular epidemiology18
Molecular Epidemiology

Is not just a term that describes adding new techniques to epidemiology. Rather, it represents an opportunity to use new resolving power to develop theories of disease causation that acknowledge complex interactions in the health process.

P Schulte

molecular epidemiology is a critical link
Molecular Epidemiology is a Critical Link

Human Genome Project

Molecular Epidemiology

Medicine and Public Health

human genome project and epidemiology
Map and sequence ~ 30,000 genes

Development of biotechnology

Ethical, legal and social issues

Map and sequence non-human genomes

Markers of disease and susceptibility

Technology for population studies

Screening and prevention

Models for disease, identify susceptibility genes

Human Genome Project and Epidemiology
objectives of molecular epidemiology
Objectives of Molecular Epidemiology
  • Conduct descriptive and analytical studies to evaluate gene / environment interactions in disease etiology
  • Provide risk factor-specific morbidity rates for purposes of education and intervention
molecular epidemiology and disease prevention
Molecular Epidemiology and Disease Prevention
  • Personalized estimates of risk may empower susceptible individuals to intervene on:
    • - Diet, lifestyle
    • - Environmental exposures
  • Targeted approaches may be more effective in preventing disease
descriptive epidemiology
Descriptive Epidemiology
  • Examines the distribution of disease

- By person, place and time

- Consequences to population

  • Rates are expressed as incidence and prevalence (i.e., morbidity rates)
descriptive molecular epidemiology
Descriptive Molecular Epidemiology
  • Assesses effects and / or outcomes early in the disease process
  • Reduces heterogeneity in disease classification
  • Examines the distribution of markers of susceptibility or exposure
analytical epidemiology
Analytical Epidemiology
  • Evaluates associations with potential risk factors
    • Host characteristics
    • Environmental exposures
  • Associations are expressed as relative risks or odds ratios
analytical molecular epidemiology
Analytical Molecular Epidemiology
  • Utilizes biological markers to replace surrogate measures that have been typically employed for traditional epidemiologic studies
    • Genetic susceptibility
    • Environmental exposures or effects
environmental risk factors
Environmental Risk Factors
  • Place of residence
  • Lifestyle / occupational indicators
  • Biological markers of exposure

- Alterations to the host genome

- Antibodies

- Infectious agents

More precise measure of exposure

genetic susceptibility
Genetic Susceptibility
  • Age, race, sex, ethnic group
  • Positive family history of the disease
  • Genetic markers / susceptibility genes

- Protein polymorphisms

- DNA polymorphisms

More precise measure of susceptibility

evaluating genes as effect modifiers
Evaluating Genes as Effect Modifiers

Mutation + Exposure = High Risk

Mutation + No Exposure = Low Risk

No Mutation + Exposure = Low Risk

No Mutation + No Exposure = Low Risk

Study Disease Etiology

evaluating genes as susceptibility markers
Evaluating Genes as Susceptibility Markers

Mutation + Exposure = High Risk

Mutation + No Exposure = Moderate Risk

No Mutation + Exposure = Moderate Risk

No Mutation + No Exposure = Low Risk

Intervene on Susceptibles

risk factor specific morbidity rates
Risk Factor-Specific Morbidity Rates



Relative risk

Absolute risk

Population attributable risk

molecular epidemiology requires
Molecular Epidemiology Requires
  • Collaboration among:

- Epidemiologists

- Human geneticists

- Environmental health scientists

- Health professionals

- Biostatisticians

- Basic scientists

challenges for molecular epidemiology
Challenges for Molecular Epidemiology
  • Develop and sustain collaboration among individuals with different

- Backgrounds

- Training

- Experience

- Goals

- Language

challenges for molecular epidemiology34
Challenges for Molecular Epidemiology


  • Human genetics, molecular biology and environmental health for epidemiologists and health professionals
  • Epidemiology and public health for human geneticists and basic scientists
challenges for molecular epidemiology35
Challenges forMolecular Epidemiology
  • Translations of the results of molecular epidemiology studies
  • Foster links with:

- Members of the community

- Policy makers

- Educators

- General public

revolution in molecular biology has impacted36




Revolution in Molecular Biology has Impacted:

Molecular Epidemiology

Challenge for the 21st Century