Family study


In genetic epidemiology, family studies are studies of whether a disease or trait "runs in a family". In other words, they are studies aimed at detecting the presence or absence of familial aggregation for the disease or trait, in which having a family history is associated with greater risk. The family research design can also be used to estimate penetrance for a given genotype, to conduct genetic association studies, and to study potential modifiers of an individual's genetic risk. If a family study shows that a trait is familial, this is a necessary, but not sufficient, criterion for it to be established as genetically influenced.

Types

There are three main types of family studies in genetics:
  1. Those aimed at measuring the extent of familial aggregation for a trait
  2. Linkage studies aimed at identifying specific genetic loci that have a moderate to large effect on risk
  3. Association studies aimed at detecting loci with relatively small effects on risk.