Study Designs in Genetic Epidemiology

Genetic epidemiology, as a relatively new science, investigates the independent role of genetic and environmental factors in the occurrence and progression of diseases. Genetic epidemiology studies, depending on the objectives, encompass the most preliminary surveys such as looking for family history of diseases to the most advanced surveys including specific strategies in prevention of genetic diseases using clinical trials. Various goals require special methods and study designs in genetic epidemiology studies. In the present study, main designs including familial aggregation, heritability, segregation, linkage and association have been studied and the purpose of each study design and the used tests are briefly discussed. Knowledge of different study designs and related tests is the main and necessary issue in accurate implementation of the studies and is also a guide to the shortest possible ways for reaching the goals.