Key Concepts in Genetic Epidemiology

  • Kalliope PanoutsopoulouEmail author
  • Eleanor Wheeler
Part of the Methods in Molecular Biology book series (MIMB, volume 1793)


Genetic epidemiology is a discipline closely allied to traditional epidemiology that deals with the analysis of the familial distribution of traits. It emerged in the mid-1980s bringing together approaches and techniques developed in mathematical and quantitative genetics, medical and population genetics, statistics and epidemiology. The purpose of this chapter is to familiarize the reader with key concepts in genetic epidemiology as applied at present to unveil the familial and genetic determinants of disease and the joint effects of genes and environmental exposures.

Key words

Genetic epidemiology Mendelian genetics Genes Deoxyribonucleic acid Alleles Single nucleotide polymorphism Recombination Linkage disequilibrium Population genetics Kinship Identity-by-descent Identity-by-state Hardy-Weinberg equilibrium Heritability Association Odds ratio 


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Wellcome Sanger InstituteWellcome Genome CampusHinxtonUnited Kingdom

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