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Genetic epidemiology is a young but rapidly developing discipline. Although its early years were largely dedicated to family-based research in monogenic disorders, now genetic-epidemiologic research increasingly focuses on complex, multifactorial disorders. Along with the development of the human-genome map and advances in molecular technology grows the importance of genetic-epidemiologic applications. Large-scale population-based studies, requiring close integration of genetic and epidemiologic research, determine future research in the field. In this paper, we review the basic principles underlying genetic-epidemiologic research, such as molecular genetics and familial aggregation of disease, as well as the typical study approaches of genome screening and candidate-gene studies.

Original publication




Journal article


Eur J Epidemiol

Publication Date





607 - 616


Bias, Chromosome Mapping, Epidemiologic Research Design, Epidemiologic Studies, Forecasting, Genetic Diseases, Inborn, Genetic Testing, Genetics, Population, Humans, Molecular Biology, Molecular Epidemiology, Mutation, Pedigree, Public Health, Risk Assessment