Genetic epidemiology

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Genetic Epidemiology

Genetic epidemiology (pronunciation: /dʒɪˈnɛtɪk ˌɛpɪˌdiːmiˈɒlədʒi/) is a branch of epidemiology that focuses on the role of genetic factors in determining health and disease in families and in populations, and the interplay of such genetic factors with environmental factors.


The term "genetic epidemiology" is derived from the words "genetic", which comes from the Greek word "genetikos" meaning "genitive" and "epidemiology" which is derived from the Greek words "epi" meaning "upon", "demos" meaning "people", and "logos" meaning "study".


Genetic epidemiology aims to elucidate the role of genetic factors and their interaction with environmental factors in the occurrence of disease in populations (population genetics). It seeks to identify specific genes or entire genetic sequences that influence health outcomes.


Genetic epidemiology employs a number of methodological approaches, including family studies, twin studies, and molecular epidemiology. These methods are used to identify the genetic and environmental factors that underlie diseases and health conditions.

Related Terms

  • Genetic predisposition: A genetic predisposition is a genetic characteristic which influences the possible phenotypic development of an individual organism within a species or population but which can be modified during an organism's lifetime by environmental conditions.
  • Genome-wide association study (GWAS): A GWAS is an observational study of a genome-wide set of genetic variants in different individuals to see if any variant is associated with a trait.
  • Linkage disequilibrium: Linkage disequilibrium is the non-random association of alleles at different loci in a given population.
  • Mendelian randomization: Mendelian randomization is a method of using measured variation in genes of known function to examine the causal effect of a modifiable exposure on disease in observational studies.

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