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Genetic disorders caused primarily by abnormalities in genes or chromosomes are rare in the general population. The associated putative mutations that lead to a high risk of developing such diseases are even rarer. In order to study disease risks associated with mutated genes, families sampled under different study designs are commonly used in association studies. This is because family data recruited via affected individuals (probands) would be expected to contain more affected individuals and mutation carriers than families randomly sampled from a general population, thus leading to increased statistical efficiency in estimating the disease risk. The disease risk associated with a mutated gene can be measured on a relative or absolute scale. As the event we consider is disease with its age of onset, the relative risk can be measured as a ratio of two hazards of developing disease between mutation carriers and non-carriers, and the absolute risk as a function of age, i.e., the cumulative risk of developing disease by a given age, which is also termed penetrance.

On Combining Family Data from Different Study Designs for Estimating Disease Risk Associated with Mutated Genes