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Key Concepts in Genetic Epidemiology.

Kalliope Panoutsopoulou1, Eleanor Wheeler2

  • 1Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, CB10 1SA, Cambridgeshire, United Kingdom. kp6@sanger.ac.uk.

Methods in Molecular Biology (Clifton, N.J.)
|June 8, 2018
PubMed
Summary

Genetic epidemiology studies how traits and diseases run in families. It combines genetics and epidemiology to understand the roles of genes and environment in health.

Keywords:
AllelesAssociationDeoxyribonucleic acidGenesGenetic epidemiologyHardy-Weinberg equilibriumHeritabilityIdentity-by-descentIdentity-by-stateKinshipLinkage disequilibriumMendelian geneticsOdds ratioPopulation geneticsRecombinationSingle nucleotide polymorphism

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Area of Science:

  • Genetic epidemiology bridges traditional epidemiology with genetics to analyze familial trait distribution.

Background:

  • Emerged in the mid-1980s, integrating mathematical genetics, population genetics, statistics, and epidemiology.
  • Focuses on understanding the familial and genetic basis of diseases.

Purpose of the Study:

  • To introduce key concepts in genetic epidemiology.
  • To explain the application of genetic epidemiology in identifying disease determinants.
  • To explore the combined influence of genetic factors and environmental exposures on health outcomes.

Main Methods:

  • Utilizes principles from mathematical and quantitative genetics.
  • Employs techniques from medical and population genetics.
  • Applies statistical and epidemiological methodologies.

Main Results:

  • Provides a framework for analyzing familial aggregation of diseases.
  • Highlights the interplay between genetic predispositions and environmental factors.
  • Establishes methods for dissecting complex disease etiology.

Conclusions:

  • Genetic epidemiology is crucial for understanding the genetic and environmental contributions to disease.
  • The discipline offers powerful tools for disease investigation and prevention strategies.