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