Association, Genetic

Analytical epidemiologic studies investigate potential associations between exposures (e.g., risk factors) and outcomes (e.g., as identified in quantitative data on traits or diseases) of interest. Genetic association studies are a special type of analytical epidemiologic studies in which the exposure of interest is represented by a genetic factor. Genetic factors are usually represented by common forms of genetic variation, such as single nucleotide polymorphisms (i.e., genetic loci for which different DNA variants can be present among different individuals) or deletions or insertions (i.e., losses or additions of a sequence of DNA in a chromosome).

Identification of genetic associations can have important implications in the prevention, diagnosis, and treatment of diseases, including complex diseases such as cancer and cardiovascular illnesses. For example, identification of specific polymorphisms related ...